ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1581C>T (p.Pro527=)

gnomAD frequency: 0.00005  dbSNP: rs140728027
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001400523 SCV001602327 likely benign Nephronophthisis 2024-02-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546647 SCV005042103 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing NPHP4: BP4, BP7

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