ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.302+20C>T

gnomAD frequency: 0.00508  dbSNP: rs61753050
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085537 SCV001719964 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000085537 SCV001883279 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Retina International RCV000085537 SCV000117674 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV001699123 SCV001920887 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699123 SCV001957937 benign not specified no assertion criteria provided clinical testing

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