ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1134G>A (p.Val378=)

gnomAD frequency: 0.00369  dbSNP: rs141088268
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614995 SCV000714752 benign not specified 2017-12-06 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 RCV000957493 SCV001104299 benign Combined malonic and methylmalonic acidemia 2025-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710142 SCV005253114 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274020 SCV001457703 benign Methylmalonic acidemia 2020-09-16 no assertion criteria provided clinical testing

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