ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)

dbSNP: rs121908572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665386 SCV000789501 likely pathogenic GRACILE syndrome 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV001062637 SCV001227451 pathogenic not provided 2021-08-26 criteria provided, single submitter clinical testing
OMIM RCV000006539 SCV000026722 pathogenic Mitochondrial complex III deficiency nuclear type 1 2001-09-01 no assertion criteria provided literature only

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