ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.-7C>T (rs62621221)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125621 SCV000169078 benign not specified 2013-10-11 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.
Vantari Genetics RCV000210810 SCV000267095 benign Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125621 SCV000303838 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000054968 SCV000478269 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125621 SCV000861485 benign not specified 2018-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000125621 SCV000966546 likely benign not specified 2018-07-03 criteria provided, single submitter clinical testing c.-7C>T in intron 2 of TSC1: This variant is classified as likely benign because a C>T/T>C change at this position does not diverge from the splice consensus se quence and is therefore unlikely to impact splicing. It has been identified in i n 0.1% (216/126578) of European chromosomes by the Genome Aggregation Database ( gnomAD, http://gnomad.broadinstitute.org; dbSNP rs62621221). ACMG/AMP Criteria a pplied: BP4, BP7, BS1_Supporting.
Tuberous sclerosis database (TSC1) RCV000054968 SCV000083186 not provided Tuberous sclerosis syndrome no assertion provided curation

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