ClinVar Miner

Submissions for variant GRCh37/hg19 9q31.3(chr9:111624558-111812725)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626497 SCV000747198 uncertain significance Optic atrophy; Developmental regression; CNS hypomyelination; Peripheral hypomyelination; Profound global developmental delay 2017-01-01 criteria provided, single submitter clinical testing

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