ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) (rs118203670)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130869 SCV000185770 benign Hereditary cancer-predisposing syndrome 2014-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713909 SCV000844552 benign not provided 2018-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000189820 SCV000243472 benign not specified 2016-05-03 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.
Illumina Clinical Services Laboratory,Illumina RCV000042182 SCV000478207 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270998 SCV000478208 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226997 SCV000284698 benign Tuberous sclerosis 1 2018-01-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000189820 SCV000540596 uncertain significance 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: Functional study does not support pathogenicity; ExAC: 0.1% (37/66740) European chromosomes
PreventionGenetics RCV000189820 SCV000303860 likely benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042182 SCV000065968 not provided Tuberous sclerosis syndrome no assertion provided curation

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