ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4218C>T (p.Asp1406=)

gnomAD frequency: 0.00002  dbSNP: rs886051794
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000356779 SCV000395648 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697713 SCV000535087 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Invitae RCV000462476 SCV000556563 likely benign Tuberous sclerosis 2 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022072 SCV001183764 likely benign Hereditary cancer-predisposing syndrome 2017-12-27 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 RCV000462476 SCV002039836 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544573 SCV004784223 likely benign TSC2-related disorder 2023-04-17 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).
All of Us Research Program, National Institutes of Health RCV000356779 SCV004824245 likely benign Tuberous sclerosis syndrome 2023-11-02 criteria provided, single submitter clinical testing

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