ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.2242G>T (p.Glu748Ter) (rs121913297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000429561 SCV000505679 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only
OMIM RCV000013953 SCV000034200 pathogenic Small cell lung cancer 1989-12-21 no assertion criteria provided literature only

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