ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3213G>A (p.Ser1071=)

gnomAD frequency: 0.00016  dbSNP: rs141233353
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244140 SCV000303756 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001510635 SCV001717728 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001510635 SCV004124078 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing ABCA4: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001510635 SCV001917445 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001510635 SCV001955618 likely benign not provided no assertion criteria provided clinical testing

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