ClinVar Miner

Submissions for variant GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207)

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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 RCV000626498 SCV000747199 pathogenic 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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