ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.347T>G (p.Leu116Arg)

dbSNP: rs2146308296
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara RCV001810080 SCV001751544 pathogenic Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 2021-06-01 criteria provided, single submitter case-control Variant segregates with the illness in the family where it was identified. ACMG criteria classifies the variant as Pathogenic (PS3, PS4, PP1-S, PM1, PM2, PM5, PP1-M, PP1, PP2, PP3, PP4)

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