ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1943T>C (p.Val648Ala) (rs771341361)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000782213 SCV000641534 likely benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013799 SCV001174429 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-07 criteria provided, single submitter clinical testing Insufficient evidence
Gharavi Laboratory,Columbia University RCV000782213 SCV000920699 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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