ClinVar Miner

Submissions for variant NM_014324.6(AMACR):c.739+16G>A

gnomAD frequency: 0.00006  dbSNP: rs376704656
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615547 SCV000732658 likely benign not specified 2017-07-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002066888 SCV002380472 likely benign Alpha-methylacyl-CoA racemase deficiency 2023-10-28 criteria provided, single submitter clinical testing

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