ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.936C>T (p.His312=)

gnomAD frequency: 0.00004  dbSNP: rs202119269
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 RCV000912739 SCV001057855 likely benign Combined malonic and methylmalonic acidemia 2024-02-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000912739 SCV001457756 uncertain significance Combined malonic and methylmalonic acidemia 2020-05-01 no assertion criteria provided clinical testing

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