NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) AND Townes syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001386756.6
Allele description [Variation Report for NM_002968.3(SALL1):c.870_871dup (p.Gln291fs)]
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024