ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.2076T>C (p.Tyr692=) (rs1060504827)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468450 SCV000562105 likely benign not provided 2016-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014342 SCV001175039 likely benign Hereditary cancer-predisposing syndrome 2018-12-27 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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