ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1560-12A>C

gnomAD frequency: 0.06985  dbSNP: rs74061802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431785 SCV000518660 benign not specified 2016-02-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511910 SCV001719233 benign Methylmalonic acidemia with homocystinuria, type cblJ 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716439 SCV005292168 benign not provided criteria provided, single submitter not provided

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