ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) (rs111033363)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039734 SCV000063423 likely benign not specified 2018-11-20 criteria provided, single submitter clinical testing p.Arg1273Ser in PCDH15 is classified as likely benign because it has been identi fied in 0.08% (116/129078) of European chromosomes by gnomAD (http://gnomad.broa dinstitute.org) and it has been identified in two individuals with Usher syndrom e who had alternate causes of the Usher syndrome identified. One individual had two pathogenic variants in PCDH15 and the other individual had two pathogenic va riants in MYO7A (Bujakowska 2014, LMM unpublished data). This variant has also been identified in another 3 individuals with Usher syndrome and 2 individuals w ith hearing loss; however, a pathogenic variant affecting the remaining copy of PCDH15 was not identified in these individuals (Bonnet 2011, Jaijo 2012, LMM unp ublished data). ACMG/AMP criteria applied: BS1_Supporting, BP2.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727028 SCV000705032 uncertain significance not provided 2018-02-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763655 SCV000894535 uncertain significance Deafness, autosomal recessive 23; Usher syndrome, type 1D; Usher syndrome, type 1F 2018-10-31 criteria provided, single submitter clinical testing

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