ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) (rs200130204)

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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 RCV000222284 SCV000271808 uncertain significance not specified 2015-05-22 criteria provided, single submitter clinical testing The p.Ser4768Leu variant in GPR98 has not been previously reported in individual s with hearing loss, but has been identified in 2/66430 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 200130204). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. Computational predict ion tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogeni city. In summary, the clinical significance of the p.Ser4768Leu variant is uncer tain.
Fulgent Genetics,Fulgent Genetics RCV000765856 SCV000897252 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing

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