ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3131+34C>T

gnomAD frequency: 0.00052  dbSNP: rs45487103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002292462 SCV002585533 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing TSC2: BS1
PreventionGenetics, part of Exact Sciences RCV004537173 SCV004754755 likely benign TSC2-related disorder 2019-03-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Tuberous sclerosis database (TSC2) RCV000043012 SCV000066810 not provided Tuberous sclerosis syndrome no assertion provided curation

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