ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1993C>G (p.Pro665Ala)

gnomAD frequency: 0.00001  dbSNP: rs1184908674
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644337 SCV000766030 likely benign Tuberous sclerosis 2 2024-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013956 SCV001174602 likely benign Hereditary cancer-predisposing syndrome 2022-11-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000644337 SCV002039603 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000644337 SCV005403538 likely benign Tuberous sclerosis 2 2024-08-12 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
All of Us Research Program, National Institutes of Health RCV004802337 SCV005427121 uncertain significance Tuberous sclerosis syndrome 2024-04-10 criteria provided, single submitter clinical testing

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