ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1367-23_1396del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144652 SCV003830585 likely pathogenic Combined malonic and methylmalonic acidemia 2023-01-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003144652 SCV004211577 uncertain significance Combined malonic and methylmalonic acidemia 2024-04-23 criteria provided, single submitter clinical testing

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