NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu) AND SHANK3-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 23, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004542126.2
Allele description [Variation Report for NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu)]
NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu)
Condition(s)
- Name:
- SHANK3-related disorder
- Synonyms:
- SHANK3-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 13, 2024