ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4368C>T (p.Leu1456=)

dbSNP: rs1555514397
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526904 SCV000644533 likely benign Tuberous sclerosis 2 2023-10-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257814 SCV002533532 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-06 criteria provided, single submitter curation
Ambry Genetics RCV002257814 SCV002627604 likely benign Hereditary cancer-predisposing syndrome 2015-12-16 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.

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