ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys)

gnomAD frequency: 0.30506  dbSNP: rs3742801
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254106 SCV000310811 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000254106 SCV000517490 benign not specified 2015-12-02 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 RCV001510699 SCV001717803 benign Methylmalonic acidemia with homocystinuria, type cblJ 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510699 SCV001768934 benign Methylmalonic acidemia with homocystinuria, type cblJ 2021-07-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000254106 SCV002050707 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing

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