ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.612T>C (p.Tyr204=)

gnomAD frequency: 0.00002  dbSNP: rs752306590
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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 RCV002093354 SCV002375816 likely benign Nephronophthisis-like nephropathy 1 2021-12-22 criteria provided, single submitter clinical testing

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