ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.1112+18G>A

gnomAD frequency: 0.00083  dbSNP: rs146595455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246842 SCV000316482 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058439 SCV002377759 benign Nephronophthisis 16 2024-03-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705123 SCV005224707 likely benign not provided criteria provided, single submitter not provided

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