ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1678G>A (p.Val560Met) (rs141631268)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562096 SCV000675473 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-08 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001080544 SCV000822631 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765264 SCV000896517 uncertain significance Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 2018-10-31 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000782250 SCV000920740 uncertain significance not provided 2018-09-16 criteria provided, single submitter research
Tuberous sclerosis database (TSC2) RCV000055282 SCV000083502 not provided Tuberous sclerosis syndrome no assertion provided curation
CSER _CC_NCGL, University of Washington RCV000055282 SCV000190667 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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