ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.933G>A (p.Pro311=)

gnomAD frequency: 0.00017  dbSNP: rs150686471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880815 SCV001023937 likely benign Combined malonic and methylmalonic acidemia 2024-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000880815 SCV001457755 likely benign Combined malonic and methylmalonic acidemia 2020-01-06 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003955815 SCV004773996 likely benign ACSF3-related disorder 2019-07-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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