NM_005333.5(HCCS):c.520G>T (p.Ala174Ser) AND Linear skin defects with multiple congenital anomalies 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003486106.2
Allele description [Variation Report for NM_005333.5(HCCS):c.520G>T (p.Ala174Ser)]
NM_005333.5(HCCS):c.520G>T (p.Ala174Ser)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024