ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1126+40G>T

gnomAD frequency: 0.65690  dbSNP: rs3743980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533660 SCV001750411 benign Combined malonic and methylmalonic acidemia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001673143 SCV001884020 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673143 SCV005253110 benign not provided criteria provided, single submitter not provided

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