ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2761C>G (p.Leu921Val)

gnomAD frequency: 0.00001  dbSNP: rs201835391
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704039 SCV000243572 benign not provided 2020-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Preventiongenetics, part of Exact Sciences RCV000122214 SCV000305187 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000471145 SCV000556627 benign Tuberous sclerosis 2 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002256078 SCV000850657 likely benign Hereditary cancer-predisposing syndrome 2020-09-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Genome-Nilou Lab RCV000471145 SCV002039250 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256078 SCV002533327 benign Hereditary cancer-predisposing syndrome 2021-06-12 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001704039 SCV004221423 uncertain significance not provided 2013-09-10 criteria provided, single submitter clinical testing
ITMI RCV000122214 SCV000086435 not provided not specified 2013-09-19 no assertion provided reference population

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