ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter)

dbSNP: rs1554581757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626943 SCV000747646 pathogenic Hearing impairment; Pulmonary artery atresia; Retinal coloboma; Chorioretinal coloboma 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001270169 SCV001367984 pathogenic CHARGE association 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.

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