ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile)

gnomAD frequency: 0.00004  dbSNP: rs377129517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229416 SCV000285423 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315687 SCV000847751 likely benign Hereditary cancer-predisposing syndrome 2016-09-07 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.
Genome-Nilou Lab RCV000229416 SCV002039864 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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