ClinVar Miner

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

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Total submissions: 7
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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 This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001082224 SCV000285361 benign Tuberous sclerosis 2 2020-11-19 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000713929 SCV001809145 likely benign not provided no assertion criteria provided clinical testing

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