ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.308G>A (p.Arg103His) (rs397514500)

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Total submissions: 5
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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 RCV000032622 SCV000784433 likely pathogenic Usher syndrome, type 1C 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662094 SCV000784434 likely pathogenic Deafness, autosomal recessive 18 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662095 SCV000784435 likely pathogenic Usher syndrome, type 1 2018-03-05 criteria provided, single submitter clinical testing
Counsyl RCV000675046 SCV000800479 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-04-27 criteria provided, single submitter clinical testing
OMIM RCV000032622 SCV000056385 pathogenic Usher syndrome, type 1C 2011-09-01 no assertion criteria provided literature only

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