ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.482-68C>G

dbSNP: rs2516734
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711161 SCV001939557 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711161 SCV005297696 benign not provided criteria provided, single submitter not provided
Tuberous sclerosis database (TSC2) RCV000043225 SCV000067026 not provided Tuberous sclerosis syndrome no assertion provided curation

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