ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) (rs45486193)

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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 RCV000163886 SCV000214476 likely benign Hereditary cancer-predisposing syndrome 2014-09-24 criteria provided, single submitter clinical testing
Invitae RCV000713929 SCV000285361 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000430629 SCV000515039 likely benign not specified 2017-11-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713929 SCV000701912 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713929 SCV000844576 benign not provided 2017-11-22 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042530 SCV000066321 not provided Tuberous sclerosis syndrome no assertion provided curation

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