ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.667-13T>C

gnomAD frequency: 0.00923  dbSNP: rs139367843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718997 SCV000724586 benign not provided 2019-09-17 criteria provided, single submitter clinical testing
Invitae RCV001518210 SCV001726865 benign Combined malonic and methylmalonic acidemia 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001518210 SCV003799575 benign Combined malonic and methylmalonic acidemia 2023-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001718997 SCV004138203 benign not provided 2022-07-01 criteria provided, single submitter clinical testing ACSF3: BS1, BS2

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