ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3884-56C>G

gnomAD frequency: 0.05069  dbSNP: rs1800724
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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 RCV001682742 SCV001898303 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682742 SCV005297729 benign not provided criteria provided, single submitter not provided
Tuberous sclerosis database (TSC2) RCV000043167 SCV000066966 not provided Tuberous sclerosis syndrome no assertion provided curation

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