ClinVar Miner

Submissions for variant NM_145166.4(ZBTB47):c.2039A>G (p.Glu680Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003128219 SCV003804199 uncertain significance Seizure; Neurodevelopmental delay 2017-12-04 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV003492821 SCV004242188 uncertain significance ZBTB47-related disorder 2017-12-04 no assertion criteria provided clinical testing

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