ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) (rs41308297)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000514669 SCV000840692 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514669 SCV000610710 uncertain significance not provided 2017-07-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514669 SCV000229918 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039649 SCV000063338 likely benign not specified 2016-07-07 criteria provided, single submitter clinical testing p.Ile2858Val in exon 38 of GPR98: This variant is not expected to have clinical significance because the isoleucine (Ile) at position 2858 is not conserved thro ugh species with 8 mammals having a valine (Val) at this position. In addition, this variant has been identified in 0.1% (91/65792) of European chromosomes an d in 0.2% (15/6590) of Finnish chromosomes by the Exome Aggregation Consortium ( ExAC,; dbSNP rs41308297).

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