ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5001C>T (p.Asn1667=)

dbSNP: rs551938797
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273962 SCV000337279 uncertain significance not provided 2015-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088051 SCV000644592 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000273962 SCV001885529 benign not provided 2019-06-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001088051 SCV002040241 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338841 SCV002640749 likely benign Hereditary cancer-predisposing syndrome 2020-06-30 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.
All of Us Research Program, National Institutes of Health RCV003995772 SCV004828707 likely benign Tuberous sclerosis syndrome 2023-09-17 criteria provided, single submitter clinical testing

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