ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln)

gnomAD frequency: 0.00421  dbSNP: rs143288344
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000430645 SCV000510865 likely benign not provided 2017-01-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000487235 SCV000569056 benign not specified 2018-01-22 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 RCV001081993 SCV000772421 benign Methylmalonic acidemia with homocystinuria, type cblJ 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000430645 SCV004136882 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ABCD4: BS2

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