ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2547C>G (p.Val849=)

dbSNP: rs2100735068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002217834 SCV002376675 likely benign Nephronophthisis 2022-03-03 criteria provided, single submitter clinical testing

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