ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile)

gnomAD frequency: 0.00001  dbSNP: rs727504913
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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,Mass General Brigham Personalized Medicine RCV000156298 SCV000206016 likely benign not specified 2014-01-28 criteria provided, single submitter clinical testing Val5838Ile in exon 81 of GPR98: This variant is not expected to have clinical si gnificance because the valine (Val) residue at position 5838 is not conserved ac ross species with several mammals (including primates) having an isoleucine (Ile ).
Invitae RCV001059912 SCV001224566 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing

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