ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His)

gnomAD frequency: 0.00017  dbSNP: rs116034780
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592521 SCV001827123 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Labcorp Genetics (formerly Invitae), Labcorp RCV001592521 SCV002461621 benign not provided 2024-10-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307755 SCV002600662 likely benign not specified 2022-10-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001592521 SCV003824296 uncertain significance not provided 2019-06-06 criteria provided, single submitter clinical testing

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