ClinVar Miner

Submissions for variant NM_001278689.2(EOGT):c.783C>T (p.His261=) (rs147327086)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421563 SCV000510873 likely benign not provided 2016-07-08 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001086471 SCV001113784 benign Adams-Oliver syndrome 4 2019-12-31 criteria provided, single submitter clinical testing

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