ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3606C>T (p.Pro1202=)

dbSNP: rs772580979
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553119 SCV000644455 likely benign Tuberous sclerosis 2 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020707 SCV001182220 likely benign Hereditary cancer-predisposing syndrome 2018-01-02 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 RCV000553119 SCV002039345 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491057 SCV002796520 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-03-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999294 SCV004833167 likely benign Tuberous sclerosis syndrome 2023-05-04 criteria provided, single submitter clinical testing

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