ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1134G>A (p.Pro378=)

dbSNP: rs754343186
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000310144 SCV000341350 uncertain significance not provided 2016-05-06 criteria provided, single submitter clinical testing
Invitae RCV001079274 SCV000644211 likely benign Tuberous sclerosis 2 2024-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001079274 SCV002041133 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321961 SCV002609495 likely benign Hereditary cancer-predisposing syndrome 2019-09-13 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 RCV003949901 SCV004761400 likely benign TSC2-related condition 2019-03-13 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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