ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3611-5C>T

dbSNP: rs200194551
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698157 SCV000526651 likely benign not provided 2019-11-04 criteria provided, single submitter clinical testing
Invitae RCV000466604 SCV000556526 benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568130 SCV000664686 likely benign Hereditary cancer-predisposing syndrome 2019-10-08 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.
Genome-Nilou Lab RCV000466604 SCV002039348 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568130 SCV002533433 likely benign Hereditary cancer-predisposing syndrome 2021-07-26 criteria provided, single submitter curation

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