ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.1195-28C>T

gnomAD frequency: 0.01059  dbSNP: rs73663563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574211 SCV001800987 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542021 SCV004771935 benign ABCA1-related disorder 2019-03-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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