ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.1357+19A>G

gnomAD frequency: 0.00024  dbSNP: rs139881907
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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 RCV002185222 SCV002356641 benign Nephronophthisis-like nephropathy 1 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002185222 SCV002802660 likely benign Nephronophthisis-like nephropathy 1 2021-08-23 criteria provided, single submitter clinical testing

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