ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.*617G>T

gnomAD frequency: 0.04114  dbSNP: rs12659370
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350176 SCV000457116 likely benign Alpha-methylacyl-CoA racemase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000403059 SCV000484133 likely benign Oculocutaneous albinism 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000350176 SCV001769078 benign Alpha-methylacyl-CoA racemase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549021 SCV001769079 benign Congenital bile acid synthesis defect 4 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001598662 SCV001827795 likely benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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