ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=)

gnomAD frequency: 0.24857  dbSNP: rs12447947
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001511905 SCV001719225 benign Combined malonic and methylmalonic acidemia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511905 SCV001750413 benign Combined malonic and methylmalonic acidemia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001673042 SCV001886135 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280411 SCV001467591 benign Methylmalonic acidemia 2020-05-01 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529539 SCV001743146 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529539 SCV001954428 benign not specified no assertion criteria provided clinical testing

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