ClinVar Miner

Submissions for variant NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) (rs397515352)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000004296 SCV000693901 pathogenic Neuronal ceroid lipofuscinosis 6 2017-06-25 criteria provided, single submitter research PVS1: Homozygous frameshift in gene where PTVs known to cause disease for autosomal recessive condition. PM3: Previously reported in 2 unrelated individuals (PMID: 23735787). PM2: 6 heterozygote in gnomAD.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171902 SCV001334796 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001250154 SCV001424392 pathogenic Neuronal ceroid lipofuscinosis type 6 criteria provided, single submitter clinical testing
OMIM RCV000004296 SCV000024462 pathogenic Neuronal ceroid lipofuscinosis 6 2002-02-01 no assertion criteria provided literature only
GeneReviews RCV000004296 SCV000086973 pathologic Neuronal ceroid lipofuscinosis 6 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000004296 SCV001132919 pathogenic Neuronal ceroid lipofuscinosis 6 2019-08-25 no assertion criteria provided clinical testing

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