ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro)

gnomAD frequency: 0.72412  dbSNP: rs7188200
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123489 SCV000166827 benign not specified 2013-05-29 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 RCV001523135 SCV001732799 benign Combined malonic and methylmalonic acidemia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001523135 SCV001750296 benign Combined malonic and methylmalonic acidemia 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274008 SCV001457690 benign Methylmalonic acidemia 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000123489 SCV001742961 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000123489 SCV001952697 benign not specified no assertion criteria provided clinical testing

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