ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=)

gnomAD frequency: 0.00346  dbSNP: rs138395741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429378 SCV000526145 likely benign not specified 2017-12-08 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 RCV000957492 SCV001104298 benign Combined malonic and methylmalonic acidemia 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000957492 SCV002092426 benign Combined malonic and methylmalonic acidemia 2020-09-15 no assertion criteria provided clinical testing

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