ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1308G>T (p.Pro436=) (rs753764275)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594395 SCV000707162 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV000594395 SCV001036627 likely benign not provided 2019-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010910 SCV001171169 likely benign Hereditary cancer-predisposing syndrome 2017-12-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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