ClinVar Miner

Submissions for variant NM_000755.5(CRAT):c.329A>G (p.Tyr110Cys) (rs141970897)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001413508 SCV001615625 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Computational Biology Unit,University of Bari RCV000766224 SCV000864411 likely pathogenic Deficiency of carnitine acetyltransferase no assertion criteria provided research

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