ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) (rs121908370)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595941 SCV000701079 pathogenic not provided 2016-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763238 SCV000893871 pathogenic Usher syndrome, type 1C; Deafness, autosomal recessive 18; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000005453 SCV000025635 pathogenic Usher syndrome, type 1C 2001-01-01 no assertion criteria provided literature only
Counsyl RCV000983994 SCV000797353 pathogenic Deafness, autosomal recessive 18 2018-01-23 no assertion criteria provided clinical testing

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