ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1825G>C (p.Ala609Pro)

dbSNP: rs2101078330
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756441 SCV001985202 uncertain significance not provided 2020-06-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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