ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.496+1G>T (rs138138689)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666962 SCV000791340 pathogenic Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-05-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090231 SCV001245636 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing

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