ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.-30+25_-30+45del

dbSNP: rs565651015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829180 SCV000970894 likely benign not provided 2018-06-18 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.
Sema4, Sema4 RCV002256556 SCV002533359 benign Hereditary cancer-predisposing syndrome 2020-10-09 criteria provided, single submitter curation

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