ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.933C>T (p.Asn311=)

gnomAD frequency: 0.00002  dbSNP: rs763093642
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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 RCV002109679 SCV002400372 likely benign Nephronophthisis-like nephropathy 1 2022-06-27 criteria provided, single submitter clinical testing

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