ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) (rs41303350)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428857 SCV000510742 likely benign not provided 2016-09-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039544 SCV000232449 benign not specified 2014-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039544 SCV000063233 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Lys5673Glu in Exon 78 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (25/6622) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs41303350).

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