ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.970-4C>T

gnomAD frequency: 0.00002  dbSNP: rs752602313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872341 SCV001014138 likely benign Nephronophthisis-like nephropathy 1 2023-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000872341 SCV002806681 likely benign Nephronophthisis-like nephropathy 1 2021-11-08 criteria provided, single submitter clinical testing

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