ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3396G>A (p.Ser1132=)

gnomAD frequency: 0.00002  dbSNP: rs373004429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467426 SCV000544376 likely benign Tuberous sclerosis 2 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002257694 SCV000848973 likely benign Hereditary cancer-predisposing syndrome 2017-02-10 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 RCV000467426 SCV002039318 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257694 SCV002533395 likely benign Hereditary cancer-predisposing syndrome 2022-03-17 criteria provided, single submitter curation

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