ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.418C>T (p.Leu140=)

dbSNP: rs1555497657
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572774 SCV000664690 likely benign Hereditary cancer-predisposing syndrome 2016-10-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000693802 SCV000821685 likely benign Tuberous sclerosis 2 2024-02-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000693802 SCV002041062 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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