ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.853T>G (p.Phe285Val)

gnomAD frequency: 0.00005  dbSNP: rs377076733
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465974 SCV000552261 benign Tuberous sclerosis 1 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568811 SCV000675354 likely benign Hereditary cancer-predisposing syndrome 2019-01-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001618239 SCV001847640 benign not provided 2020-10-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 23401075, 21309039)
Genome-Nilou Lab RCV000465974 SCV002040490 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568811 SCV002531494 likely benign Hereditary cancer-predisposing syndrome 2021-04-27 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001618239 SCV004221400 uncertain significance not provided 2010-08-25 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000054874 SCV000083089 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122199 SCV000086418 not provided not specified 2013-09-19 no assertion provided reference population

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