ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) (rs45517295)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163429 SCV000213975 likely benign Hereditary cancer-predisposing syndrome 2018-11-27 criteria provided, single submitter clinical testing Other data supporting benign classification;Subpopulation frequency in support of benign classification
GeneDx RCV000122223 SCV000243580 benign not specified 2017-06-14 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 RCV000233956 SCV000285350 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043019 SCV000395628 benign Tuberous sclerosis syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Tuberous sclerosis database (TSC2) RCV000043019 SCV000066817 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122223 SCV000086444 not provided not specified 2013-09-19 no assertion provided reference population

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