ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.769-3C>T

gnomAD frequency: 0.00001  dbSNP: rs368010652
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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) RCV000598283 SCV000701675 uncertain significance not provided 2016-10-13 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075795 SCV001241428 uncertain significance Retinal dystrophy 2019-07-11 criteria provided, single submitter clinical testing
Invitae RCV000598283 SCV001724084 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000598283 SCV001856669 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935588 SCV004752681 likely benign ABCA4-related condition 2019-07-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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