ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.667-9C>T

dbSNP: rs369865917
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901043 SCV001045390 likely benign Combined malonic and methylmalonic acidemia 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000901043 SCV002805064 likely benign Combined malonic and methylmalonic acidemia 2021-07-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000901043 SCV001452688 uncertain significance Combined malonic and methylmalonic acidemia 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003922963 SCV004740149 likely benign ACSF3-related disorder 2019-09-09 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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