ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2185-2A>G

dbSNP: rs1358056232
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669950 SCV000794753 likely pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-10-16 criteria provided, single submitter clinical testing

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