ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)

gnomAD frequency: 0.00001  dbSNP: rs397515142
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560840 SCV000644238 benign Tuberous sclerosis 2 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001580066 SCV000723740 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15798777, 21309039)
Genome-Nilou Lab RCV000560840 SCV002041329 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381357 SCV002702209 likely benign Hereditary cancer-predisposing syndrome 2020-01-10 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.
Tuberous sclerosis database (TSC2) RCV000055407 SCV000083628 not provided Tuberous sclerosis syndrome no assertion provided curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580066 SCV001809547 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580066 SCV001964899 uncertain significance not provided no assertion criteria provided clinical testing

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