ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.729G>A (p.Pro243=)

dbSNP: rs768799062
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001481475 SCV001685820 likely benign Combined malonic and methylmalonic acidemia 2023-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001481475 SCV002092416 likely benign Combined malonic and methylmalonic acidemia 2020-09-23 no assertion criteria provided clinical testing

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