ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4569+46C>T

dbSNP: rs45482793
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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 RCV000250215 SCV000305226 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000832446 SCV000974201 likely benign not provided 2018-06-15 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315574 SCV004016089 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043123 SCV000066922 not provided Tuberous sclerosis syndrome no assertion provided curation

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