ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) (rs764670582)

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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 RCV000513765 SCV000610462 likely pathogenic not provided 2017-07-24 criteria provided, single submitter clinical testing
OMIM RCV000185622 SCV000238534 pathogenic Craniometaphyseal dysplasia, autosomal recessive type 2013-01-01 no assertion criteria provided literature only

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