ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14973-2A>G (rs371981035)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039531 SCV000063220 pathogenic Rare genetic deafness 2012-04-24 criteria provided, single submitter clinical testing The 14973-2A>G variant in GPR98 has not been reported in the literature nor prev iously identified by our laboratory. This variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered sp licing leading to an abnormal or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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