ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) (rs146140125)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713755 SCV000844384 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720096 SCV000850972 likely benign Seizures 2018-07-13 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Other data supporting benign classification
Invitae RCV000713755 SCV001003434 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing

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