GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3 AND Microcephaly-digital anomalies-intellectual disability syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003444168.1
Allele description [Variation Report for GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3]
GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3
Condition(s)
- Name:
- Microcephaly-digital anomalies-intellectual disability syndrome
- Identifiers:
- MedGen: CN199250
-
MAG: Methanococcus maripaludis isolate CTOTU39187 NODE_16_length_71411_cov_167.0...
MAG: Methanococcus maripaludis isolate CTOTU39187 NODE_16_length_71411_cov_167.088472, whole genome shotgun sequencegi|2686876744|ref|NZ_DAIRMP01000000 gnl|WGS:NZ_DAIRMP01|NODE_16_length_71411_cov_167.088472Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 9, 2023