ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) (rs201416399)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710434 SCV000343773 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000376440 SCV000711060 likely benign not specified 2017-01-12 criteria provided, single submitter clinical testing p.Gln5059His in exon 74 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, three mammals (Alpaca, Bactrian camel, Cape elephant shrew) have a histid ine (His) at this position. It has been identified in 0.2% (16/9634) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut; dbSNP rs201416399).
Athena Diagnostics Inc RCV000710434 SCV000840650 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
Invitae RCV000710434 SCV001696055 likely benign not provided 2020-10-09 criteria provided, single submitter clinical testing

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