ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2295C>T (p.Ala765=)

gnomAD frequency: 0.00019  dbSNP: rs45509500
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081090 SCV000556665 benign Tuberous sclerosis 2 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002256027 SCV000850798 likely benign Hereditary cancer-predisposing syndrome 2016-12-19 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.
Eurofins Ntd Llc (ga) RCV000731964 SCV000859838 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000731964 SCV001988793 benign not provided 2021-08-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001081090 SCV002039638 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256027 SCV002531056 benign Hereditary cancer-predisposing syndrome 2022-02-07 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002281730 SCV002571956 likely benign not specified 2022-08-11 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042939 SCV000066736 not provided Tuberous sclerosis syndrome no assertion provided curation

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