ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2541C>T (p.Asn847=)

gnomAD frequency: 0.00030  dbSNP: rs146659313
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945490 SCV001091511 likely benign Nephronophthisis 14 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413746 SCV004139292 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ZNF423: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003413746 SCV005216402 likely benign not provided criteria provided, single submitter not provided

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