ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2546-31G>A

gnomAD frequency: 0.01027  dbSNP: rs145738496
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245267 SCV000305179 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001596948 SCV001830693 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315581 SCV004016108 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001596948 SCV005216985 likely benign not provided criteria provided, single submitter not provided
Tuberous sclerosis database (TSC2) RCV000055372 SCV000083593 not provided Tuberous sclerosis syndrome no assertion provided curation
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000245267 SCV001932982 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000245267 SCV001974278 benign not specified no assertion criteria provided clinical testing

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