ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1998-2A>G (rs397517452)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000824733 SCV000063397 pathogenic Rare genetic deafness 2012-04-30 criteria provided, single submitter clinical testing The 1998-2A>G variant (PCDH15) has not been reported in the literature nor previ ously identified by our laboratory. This variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered spl icing leading to an abnormal or absent protein. In summary, this variant meets our criteria to be classified as pathogenic.
Counsyl RCV000039708 SCV000795879 likely pathogenic Usher syndrome type 1F 2017-11-21 criteria provided, single submitter clinical testing

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