ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5312+8G>A

gnomAD frequency: 0.00016  dbSNP: rs187953772
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152716 SCV000202102 uncertain significance not provided 2014-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000152716 SCV001045545 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000152716 SCV001849581 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544389 SCV004772042 likely benign ABCA4-related disorder 2019-02-22 no assertion criteria provided 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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