ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys)

gnomAD frequency: 0.00003  dbSNP: rs375075952
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000713943 SCV000243718 likely benign not provided 2020-07-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29778030, 29740858)
Invitae RCV001083713 SCV000644625 likely benign Tuberous sclerosis 2 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561869 SCV000675639 likely benign Hereditary cancer-predisposing syndrome 2022-08-09 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.
Athena Diagnostics Inc RCV000713943 SCV000844591 uncertain significance not provided 2018-03-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083713 SCV002040269 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000561869 SCV002534046 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-19 criteria provided, single submitter curation

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