ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) (rs147719291)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469951 SCV000544359 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000601185 SCV000718155 likely benign not specified 2017-04-04 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.
Ambry Genetics RCV000718821 SCV000849685 uncertain significance History of neurodevelopmental disorder 2018-07-31 criteria provided, single submitter clinical testing Insufficient evidence

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