ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2013G>A (p.Ala671=)

gnomAD frequency: 0.00207  dbSNP: rs143468235
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000246350 SCV000231134 likely benign not specified 2016-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000246350 SCV000312335 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650253 SCV000772093 benign Nephronophthisis 14 2024-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000650253 SCV002514221 benign Nephronophthisis 14 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262775 SCV002545785 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ZNF423: BP4, BP7

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