ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) (rs1051771)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164604 SCV000215264 likely benign Hereditary cancer-predisposing syndrome 2014-06-17 criteria provided, single submitter clinical testing
GeneDx RCV000189953 SCV000243621 benign not specified 2015-01-09 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 RCV001086522 SCV000556590 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000472886 SCV001146290 likely benign not provided 2018-11-05 criteria provided, single submitter clinical testing

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