ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4662+16C>T

gnomAD frequency: 0.00002  dbSNP: rs45517356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611013 SCV000726478 likely benign not specified 2018-01-11 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.
Invitae RCV002054846 SCV002350370 likely benign Tuberous sclerosis 2 2024-01-03 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042741 SCV000066536 not provided Tuberous sclerosis syndrome no assertion provided curation

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