ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) (rs137920189)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189910 SCV000243569 likely benign not specified 2017-12-28 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203097 SCV000257719 uncertain significance Tuberous sclerosis 2 2015-06-25 criteria provided, single submitter clinical testing
Invitae RCV000203097 SCV000544482 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567626 SCV000664689 likely benign Hereditary cancer-predisposing syndrome 2018-10-19 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification

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