ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1613+16del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003642494 SCV004510579 benign Combined malonic and methylmalonic acidemia 2024-02-22 criteria provided, single submitter clinical testing

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