ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3327G>A (p.Pro1109=) (rs45478393)

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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 RCV000166698 SCV000217506 likely benign Hereditary cancer-predisposing syndrome 2014-12-23 criteria provided, single submitter clinical testing
Invitae RCV000558725 SCV000644424 benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042510 SCV000066301 not provided Tuberous sclerosis syndrome no assertion provided curation

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