ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) (rs200180113)

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Total submissions: 3
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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 RCV000010141 SCV000784360 likely pathogenic Reynolds syndrome 2018-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001096991 SCV001253242 uncertain significance Greenberg dysplasia 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000010141 SCV000030362 pathogenic Reynolds syndrome 2010-06-01 no assertion criteria provided literature only

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