ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.693G>A (p.Val231=)

gnomAD frequency: 0.00001  dbSNP: rs746229585
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001451524 SCV001655154 likely benign Nephronophthisis 2024-01-08 criteria provided, single submitter clinical testing

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