ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5175G>A (p.Val1725=)

dbSNP: rs886038357
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000250400 SCV000305243 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000462257 SCV000556606 likely benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000462257 SCV002039922 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338798 SCV002643119 likely benign Hereditary cancer-predisposing syndrome 2020-03-25 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.

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