NM_004646.4(NPHS1):c.1019C>A (p.Pro340His) AND Finnish congenital nephrotic syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Mar 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000049830.4
Allele description [Variation Report for NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)]
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024
SCV000082239