ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2869-1G>T (rs1554883705)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674501 SCV000799848 likely pathogenic Usher syndrome, type 1F 2018-05-10 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770853 SCV000902355 likely pathogenic Deafness, autosomal recessive 23 2019-02-26 no assertion criteria provided case-control

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