ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5161-9C>T (rs45515893)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125700 SCV000169164 benign not specified 2013-04-02 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.
Invitae RCV000227417 SCV000285448 benign Tuberous sclerosis 2 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125700 SCV000305242 benign not specified 2016-03-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043120 SCV000395677 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000125700 SCV000711366 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 5161-9C>T in intron 40 of TSC2: This variant is not expected to have clinical si gnificance because it has been identified in 4.6% (9/194) of Han Chinese chromos omes from a broad population by the 1000 Genomes Project (; dbSNP rs45515893).
Tuberous sclerosis database (TSC2) RCV000043120 SCV000066919 not provided Tuberous sclerosis syndrome no assertion provided curation

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