ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.185G>A (p.Arg62His) (rs751486476)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626225 SCV000746871 pathogenic Neuronal ceroid lipofuscinosis 6 2017-12-18 criteria provided, single submitter clinical testing
Child Neurology Division, Pediatrics Department,KAHER's Jawaharlal Nehru Medical College, Belagavi RCV000626225 SCV000889948 pathogenic Neuronal ceroid lipofuscinosis 6 2019-03-06 no assertion criteria provided clinical testing The identified variant has been previously reported in a familial case of NCL; however, evidence for the pathogenicity of this variant was not provided in this study. Sharp JD et al. 2003. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum. Mutat. 22(1):35-42

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