ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.613C>A (p.Gln205Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002612201 SCV003509516 benign not provided 2022-05-18 criteria provided, single submitter clinical testing
GeneDx RCV002612201 SCV004168872 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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