ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2997C>T (p.Ser999=)

gnomAD frequency: 0.00001  dbSNP: rs893757571
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644312 SCV000766005 likely benign Tuberous sclerosis 2 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440305 SCV002747014 likely benign Hereditary cancer-predisposing syndrome 2015-12-18 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.
PreventionGenetics, part of Exact Sciences RCV003892458 SCV004715332 likely benign TSC2-related condition 2020-10-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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