NM_001080779.2(MYO1C):c.385A>G (p.Thr129Ala) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004100129.1
Allele description [Variation Report for NM_001080779.2(MYO1C):c.385A>G (p.Thr129Ala)]
NM_001080779.2(MYO1C):c.385A>G (p.Thr129Ala)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
"Diagnostic Laboratory, Strasbourg University Hospital"[submitter... (1)
"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND "IGF1R"[gene]SearchClinVar
-
C1845366[trait identifier] AND "Institute of Human Genetics, Univ... (3)
C1845366[trait identifier] AND "Institute of Human Genetics, University of Leipzig Medical Center"[submitter]SearchClinVar
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Last Updated: Jun 2, 2024