ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1662G>A (p.Ser554=)

gnomAD frequency: 0.00001  dbSNP: rs775617895
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573742 SCV000675638 likely benign Hereditary cancer-predisposing syndrome 2015-06-22 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.
Invitae RCV000644317 SCV000766010 benign Tuberous sclerosis 2 2023-12-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644317 SCV002041368 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497218 SCV002807811 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-01-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000644317 SCV004360868 likely benign Tuberous sclerosis 2 2022-09-21 criteria provided, single submitter clinical testing

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