ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) (rs200346578)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000463803 SCV000520600 benign not provided 2019-10-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32211034)
Invitae RCV001086052 SCV000556517 benign Tuberous sclerosis 2 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565188 SCV000675482 likely benign Hereditary cancer-predisposing syndrome 2015-11-02 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.
Athena Diagnostics Inc RCV000463803 SCV001146281 benign not provided 2019-01-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000463803 SCV001150711 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing

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