ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser)

gnomAD frequency: 0.00019  dbSNP: rs201022212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000967389 SCV001114773 likely benign Combined malonic and methylmalonic acidemia 2024-01-29 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000967389 SCV001448970 likely benign Combined malonic and methylmalonic acidemia 2018-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960786 SCV004766991 benign ACSF3-related condition 2019-07-12 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000967389 SCV002092435 benign Combined malonic and methylmalonic acidemia 2019-10-22 no assertion criteria provided clinical testing

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