ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup) (rs1600887859)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague RCV000850191 SCV000987304 pathogenic Neuronal ceroid lipofuscinosis 4B 2019-09-01 criteria provided, single submitter research The c.370_399dup (p.(Y120YCCCCLCCCFN)), in exon 4 of DNAJC5 (NM_025219.2) variant has been reported in one canadian family with ausomal dominant adult-onset neuronal ceroid lipofuscinosis.

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