ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.771+18T>A

gnomAD frequency: 0.00001  dbSNP: rs1446639138
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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 RCV001052776 SCV001217001 likely benign Nephronophthisis 2024-10-16 criteria provided, single submitter clinical testing

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