ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met)

gnomAD frequency: 0.00001  dbSNP: rs121908574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851699 SCV002262814 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing
OMIM RCV000006541 SCV000026724 pathogenic Mitochondrial complex III deficiency nuclear type 1 2001-09-01 no assertion criteria provided literature only

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