ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1362-5C>T

gnomAD frequency: 0.00001  dbSNP: rs372424945
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468881 SCV000556552 likely benign Tuberous sclerosis 2 2024-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562285 SCV000675593 benign Hereditary cancer-predisposing syndrome 2020-10-30 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000602686 SCV000728008 likely benign not specified 2018-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000468881 SCV002039541 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000468881 SCV005404759 benign Tuberous sclerosis 2 2024-09-05 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
All of Us Research Program, National Institutes of Health RCV004802029 SCV005427078 likely benign Tuberous sclerosis syndrome 2024-05-14 criteria provided, single submitter clinical testing

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