ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2502+51A>G (rs75802666)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829954 SCV000971686 benign not provided 2018-06-14 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.
Tuberous sclerosis database (TSC1) RCV000054931 SCV000083146 not provided Tuberous sclerosis syndrome no assertion provided curation

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