ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.366G>A (p.Leu122=)

gnomAD frequency: 0.00017  dbSNP: rs201469402
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001429528 SCV001632244 likely benign Nephronophthisis-like nephropathy 1 2023-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001429528 SCV002812630 likely benign Nephronophthisis-like nephropathy 1 2022-04-08 criteria provided, single submitter clinical testing

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