ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3883+78G>A

gnomAD frequency: 0.02672  dbSNP: rs1800705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830083 SCV000971818 likely benign not provided 2018-06-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV000830083 SCV005216999 likely benign not provided criteria provided, single submitter not provided
Tuberous sclerosis database (TSC2) RCV000042537 SCV000066328 not provided Tuberous sclerosis syndrome no assertion provided curation

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