ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) (rs148527903)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000858996 SCV000243698 benign not provided 2019-08-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26703369, 24728327)
Invitae RCV000227253 SCV000285382 benign Tuberous sclerosis 2 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350281 SCV000395642 likely benign Tuberous sclerosis syndrome 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV000490949 SCV000579589 likely benign Hereditary cancer-predisposing syndrome 2018-08-20 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification;Subpopulation frequency in support of benign classification
Mayo Clinic Laboratories, Mayo Clinic RCV000227253 SCV000782485 uncertain significance Tuberous sclerosis 2 2016-09-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000858996 SCV001146284 benign not provided 2019-04-04 criteria provided, single submitter clinical testing
ITMI RCV000122231 SCV000086454 not provided not specified 2013-09-19 no assertion provided reference population

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