ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5160+23G>A

gnomAD frequency: 0.00013  dbSNP: rs368565375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003944975 SCV004756999 benign TSC2-related condition 2021-01-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Tuberous sclerosis database (TSC2) RCV000055404 SCV000083625 not provided Tuberous sclerosis syndrome no assertion provided curation

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