ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile)

gnomAD frequency: 0.00082  dbSNP: rs149544995
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Total submissions: 4
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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 RCV000039543 SCV000063232 benign not specified 2017-01-31 criteria provided, single submitter clinical testing p.Thr5614Ile in exon 78 of GPR98: This variant is not expected to have clinical significance because it has been identified in 3.7% (428/11554 ) of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs149544995).
GeneDx RCV000039543 SCV000713885 benign not specified 2017-03-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000949285 SCV001095535 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490542 SCV002796670 likely benign Usher syndrome type 2C; Febrile seizures, familial, 4 2021-09-07 criteria provided, single submitter clinical testing

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