ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2639+44C>G

dbSNP: rs1800715
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250534 SCV000305183 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001610339 SCV001838112 benign not provided 2018-06-21 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315576 SCV004016099 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043350 SCV000067156 not provided Tuberous sclerosis syndrome no assertion provided curation
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000250534 SCV001930796 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000250534 SCV001975307 benign not specified no assertion criteria provided clinical testing

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