ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile) (rs45490993)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469641 SCV000556690 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563588 SCV000675522 likely benign Hereditary cancer-predisposing syndrome 2019-02-04 criteria provided, single submitter clinical testing Other strong data supporting benign classification;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;in silico models in agreement (benign);Other data supporting benign classification
Tuberous sclerosis database (TSC2) RCV000055068 SCV000083286 not provided Tuberous sclerosis syndrome no assertion provided curation

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