ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg) (rs387907043)

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Total submissions: 2
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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 RCV000023879 SCV000999258 pathogenic Neuronal ceroid lipofuscinosis 4B criteria provided, single submitter research The c.344T>G (p.(L115R)) in exon 4 of DNAJC5 (NM_025219.2) variant was reported by Noskova et al. in 2011 as causative for ausomal dominant adult-onset neuronal ceroid lipofuscinosis (DOI: 10.1016/j.ajhg.2011.07.003).
OMIM RCV000023879 SCV000045170 pathogenic Neuronal ceroid lipofuscinosis 4B 2013-06-01 no assertion criteria provided literature only

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