ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4849+12C>T

gnomAD frequency: 0.00005  dbSNP: rs45517373
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000043230 SCV001279945 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001650883 SCV001867753 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002054857 SCV002408164 likely benign Tuberous sclerosis 2 2024-01-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256028 SCV002533979 likely benign Hereditary cancer-predisposing syndrome 2020-10-13 criteria provided, single submitter curation
Tuberous sclerosis database (TSC2) RCV000043230 SCV000067031 not provided Tuberous sclerosis syndrome no assertion provided curation

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