ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.*982C>T

gnomAD frequency: 0.01163  dbSNP: rs16892066
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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 RCV000329461 SCV000457110 likely benign Alpha-methylacyl-CoA racemase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391906 SCV000484130 likely benign Oculocutaneous albinism 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001565034 SCV001788300 likely benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001565034 SCV005259741 likely benign not provided criteria provided, single submitter not provided

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