ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) (rs114046098)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713753 SCV000844382 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719082 SCV000849946 benign Seizures 2017-06-30 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000713753 SCV001002892 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000713753 SCV001788824 likely benign not provided 2020-08-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000713753 SCV001931398 likely benign not provided no assertion criteria provided clinical testing

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