NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) AND Melnick-Needles syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (4 submissions)
- Last evaluated:
- Nov 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000012525.22
Allele description [Variation Report for NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)]
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
Condition(s)
Assertion and evidence details
Last Updated: Mar 23, 2024