ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.810+14A>C

gnomAD frequency: 0.00173  dbSNP: rs201977545
Minimum review status: Collection method:
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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 RCV001509750 SCV001716611 benign Nephronophthisis 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495781 SCV002799829 likely benign Nephronophthisis 4; Senior-Loken syndrome 4 2021-08-23 criteria provided, single submitter clinical testing

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