ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.678C>T (p.Ser226=)

gnomAD frequency: 0.00001  dbSNP: rs537999029
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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 RCV001417266 SCV001619464 likely benign Nephronophthisis 14 2019-10-31 criteria provided, single submitter clinical testing

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