ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4219G>A (p.Val1407Met)

gnomAD frequency: 0.00003  dbSNP: rs45517332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456699 SCV000544406 benign Tuberous sclerosis 2 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571397 SCV000675529 likely benign Hereditary cancer-predisposing syndrome 2023-01-24 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 RCV000456699 SCV002039837 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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