NM_014601.4(EHD2):c.1070A>C (p.Gln357Pro) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004213512.1
Allele description [Variation Report for NM_014601.4(EHD2):c.1070A>C (p.Gln357Pro)]
NM_014601.4(EHD2):c.1070A>C (p.Gln357Pro)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 2, 2024