ClinVar Miner

Submissions for variant NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser) (rs775633137)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. Liu's Molecular Genetics Laboratory,University of Miami Miller School of Medicine RCV000590894 SCV000588892 likely pathogenic Autosomal dominant non-syndromic sensorineural deafness type DFNA 2017-08-14 no assertion criteria provided research The affected members show autosomal dominant progressive hearing loss.
OMIM RCV000690972 SCV000818705 pathogenic Hearing loss, autosomal dominant 74 2018-10-12 no assertion criteria provided literature only

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