ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1088del (p.Leu363fs) (rs199469706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198734 SCV001369729 pathogenic Prelingual sensorineural hearing impairment; Nyctalopia; Peripheral visual field loss 2019-11-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BS2. This variant was detected in heterozygous state.
OMIM RCV000005217 SCV000025395 pathogenic Usher syndrome type 1F 2012-10-05 no assertion criteria provided literature only

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