ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14902G>A (p.Asp4968Asn) (rs764124390)

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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 RCV000218549 SCV000272893 uncertain significance not specified 2015-05-28 criteria provided, single submitter clinical testing The p.Asp4968Asn variant in USH2A has not been previously reported in individual s with hearing loss, but has been identified in 6/11568 Latino chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conserv ation analysis do not provide strong support for or against an impact to the pro tein. In summary, the clinical significance of the p.Asp4968Asn variant is uncer tain.
Counsyl RCV000668291 SCV000792865 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-07-21 criteria provided, single submitter clinical testing

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