ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) (rs45517338)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079491 SCV000544480 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562910 SCV000675542 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing Insufficient evidence
Athena Diagnostics Inc RCV000713934 SCV000844581 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042552 SCV000066346 not provided Tuberous sclerosis syndrome no assertion provided curation

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