ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3733C>A (p.Arg1245=)

dbSNP: rs777489742
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477628 SCV000556576 likely benign Tuberous sclerosis 2 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561517 SCV000675556 likely benign Hereditary cancer-predisposing syndrome 2016-09-16 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.
GeneDx RCV001584180 SCV001810692 likely benign not provided 2020-09-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000477628 SCV002039364 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000561517 SCV002533443 likely benign Hereditary cancer-predisposing syndrome 2020-10-20 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002489102 SCV002796276 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-01-22 criteria provided, single submitter clinical testing

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