ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.555C>T (p.Val185=)

gnomAD frequency: 0.00001  dbSNP: rs1260446910
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001495516 SCV001700198 likely benign Combined malonic and methylmalonic acidemia 2023-02-03 criteria provided, single submitter clinical testing

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