ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1701G>A (p.Ala567=) (rs35478675)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164124 SCV000214739 likely benign Hereditary cancer-predisposing syndrome 2014-12-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713906 SCV000844547 benign not provided 2018-08-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174843 SCV000226222 benign not specified 2014-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000174843 SCV000169085 benign not specified 2013-10-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000230953 SCV000284682 benign Tuberous sclerosis 1 2017-12-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000174843 SCV000303850 benign not specified criteria provided, single submitter clinical testing

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