ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2832A>G (p.Ser944=)

gnomAD frequency: 0.00002  dbSNP: rs771821915
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002066199 SCV002434932 likely benign Nephronophthisis 14 2021-10-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584829 SCV005075537 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing ZNF423: BP4, BP7

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