ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1362-32C>G

gnomAD frequency: 0.00391  dbSNP: rs45517166
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000210892 SCV000264613 likely benign Tuberous sclerosis 2 2016-01-01 criteria provided, single submitter research
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000210892 SCV004016203 likely benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042967 SCV000066764 not provided Tuberous sclerosis syndrome no assertion provided curation
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001682741 SCV001905796 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001682741 SCV001963905 benign not specified no assertion criteria provided clinical testing

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