ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) (rs397515146)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539242 SCV000644205 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765261 SCV000896514 uncertain significance Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 2018-10-31 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055413 SCV000083634 not provided Tuberous sclerosis syndrome no assertion provided curation

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