ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.1176G>A (p.Pro392=)

gnomAD frequency: 0.00005  dbSNP: rs748728165
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
Eurofins Ntd Llc (ga) RCV000592535 SCV000702799 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001296357 SCV001485318 likely benign Nephronophthisis 14 2024-03-11 criteria provided, single submitter clinical testing

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