ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1567G>C (p.Ala523Pro) (rs118203548)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569517 SCV000664764 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000466589 SCV000552284 benign Tuberous sclerosis 1 2017-11-20 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042050 SCV000065833 not provided Tuberous sclerosis syndrome no assertion provided curation

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