NM_001372044.2(SHANK3):c.4181T>G (p.Leu1394Arg) AND SHANK3-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004536918.1
Allele description [Variation Report for NM_001372044.2(SHANK3):c.4181T>G (p.Leu1394Arg)]
NM_001372044.2(SHANK3):c.4181T>G (p.Leu1394Arg)
Condition(s)
- Name:
- SHANK3-related disorder
- Synonyms:
- SHANK3-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Sep 8, 2024