ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) (rs137854154)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130880 SCV000185785 benign Hereditary cancer-predisposing syndrome 2015-08-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),Other data supporting benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Invitae RCV000204918 SCV000261891 benign Tuberous sclerosis 2 2018-01-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122206 SCV000336111 likely benign not specified 2015-10-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042922 SCV000395580 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000122206 SCV000540600 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.5% (46/8536) European chromosomes; ClinVar: 2 labs classify as LB. 3/5 pubs describe as nonpathogenic.
Tuberous sclerosis database (TSC2) RCV000042922 SCV000066719 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122206 SCV000086427 not provided not specified 2013-09-19 no assertion provided reference population
CSER_CC_NCGL; University of Washington Medical Center RCV000042922 SCV000190665 likely benign Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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