ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys)

dbSNP: rs121908575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851700 SCV002240635 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
OMIM RCV000006543 SCV000026726 pathogenic Mitochondrial complex III deficiency nuclear type 1 2009-06-01 no assertion criteria provided literature only

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