NM_173551.5(ANKS6):c.2157C>A (p.Ser719Arg) AND Nephronophthisis 16
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003019841.2
Allele description [Variation Report for NM_173551.5(ANKS6):c.2157C>A (p.Ser719Arg)]
NM_173551.5(ANKS6):c.2157C>A (p.Ser719Arg)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024