ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.*663G>A

gnomAD frequency: 0.21767  dbSNP: rs15612
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292807 SCV000457115 benign Alpha-methylacyl-CoA racemase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344126 SCV000484132 likely benign Oculocutaneous albinism 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000292807 SCV001769076 benign Alpha-methylacyl-CoA racemase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549020 SCV001769077 benign Congenital bile acid synthesis defect 4 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001618641 SCV001847408 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618641 SCV005259744 likely benign not provided criteria provided, single submitter not provided

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