ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2760C>T (p.Val920=)

dbSNP: rs149490538
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163488 SCV000214045 likely benign Hereditary cancer-predisposing syndrome 2014-10-09 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.
Invitae RCV000532306 SCV000644376 benign Tuberous sclerosis 2 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001589024 SCV001823223 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000532306 SCV002039249 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498808 SCV002807319 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-09-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995259 SCV004818775 likely benign Tuberous sclerosis syndrome 2023-10-30 criteria provided, single submitter clinical testing

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