ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.3602-16C>T

gnomAD frequency: 0.00099  dbSNP: rs200838088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520968 SCV001730194 benign Nephronophthisis 14 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729937 SCV001977915 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729937 SCV001979076 likely benign not provided no assertion criteria provided clinical testing

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