ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.*1070C>T

gnomAD frequency: 0.03353  dbSNP: rs16892064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272108 SCV000457109 likely benign Alpha-methylacyl-CoA racemase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000347567 SCV000484129 likely benign Oculocutaneous albinism 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001618640 SCV001844894 benign not provided 2019-03-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618640 SCV005259740 likely benign not provided criteria provided, single submitter not provided

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