ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.375C>T (p.Asp125=)

gnomAD frequency: 0.00002  dbSNP: rs560863078
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539101 SCV000641652 likely benign Tuberous sclerosis 1 2023-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000832612 SCV000974368 likely benign not provided 2019-08-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000539101 SCV002040512 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367855 SCV002625908 likely benign Hereditary cancer-predisposing syndrome 2023-09-11 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689787 SCV005184636 likely benign not specified 2024-05-24 criteria provided, single submitter clinical testing

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