ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.121C>A (p.Leu41Ile) (rs118203334)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086659 SCV000552376 likely benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010401 SCV001170598 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-25 criteria provided, single submitter clinical testing Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034600 SCV000043521 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Tuberous sclerosis database (TSC1) RCV000054854 SCV000065779 not provided Tuberous sclerosis syndrome no assertion provided curation

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