ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val) (rs727503078)

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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 RCV000150770 SCV000198261 likely benign not specified 2013-06-21 criteria provided, single submitter clinical testing Ile3356Val in exon 48 of GPR98: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, rhesus, baboon, rat and horse have a valine (Val) at this position despite high nearby amino acid conservation.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732465 SCV000860428 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing

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