ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.273G>A (p.Ser91=) (rs115097221)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232442 SCV000284708 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000245356 SCV000303865 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000245356 SCV000344517 likely benign not specified 2016-09-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000232442 SCV000478261 likely benign Tuberous sclerosis 1 2018-03-26 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000403188 SCV000478262 likely benign Focal cortical dysplasia type II 2018-03-26 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000573437 SCV000675349 benign Hereditary cancer-predisposing syndrome 2015-03-16 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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