ClinVar Miner

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

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Total submissions: 3
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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 Ceroid lipofuscinosis neuronal 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.
OMIM RCV000004296 SCV000024462 pathogenic Ceroid lipofuscinosis neuronal 6 2002-02-01 no assertion criteria provided literature only
GeneReviews RCV000004296 SCV000086973 pathologic Ceroid lipofuscinosis neuronal 6 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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