ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) (rs375062187)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222926 SCV000270228 likely benign not specified 2015-03-04 criteria provided, single submitter clinical testing p.Ala4791Ala in exon 70 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. In addition, it has been identified in 12/ 65972 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exa; dbSNP rs375062187).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725569 SCV000337880 uncertain significance not provided 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000222926 SCV000714331 likely benign not specified 2017-11-17 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 RCV000725569 SCV001122338 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725569 SCV001142923 uncertain significance not provided 2019-03-04 criteria provided, single submitter clinical testing

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