ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4392C>T (p.Ser1464=)

gnomAD frequency: 0.00004  dbSNP: rs528080018
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719990 SCV000515046 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Invitae RCV000458625 SCV000556479 benign Tuberous sclerosis 2 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022413 SCV001184145 likely benign Hereditary cancer-predisposing syndrome 2018-05-10 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 RCV000458625 SCV002039460 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001022413 SCV002533534 likely benign Hereditary cancer-predisposing syndrome 2021-11-10 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002502485 SCV002809607 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-03-22 criteria provided, single submitter clinical testing

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