ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) (rs200528472)

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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 RCV000178673 SCV000230798 benign not specified 2014-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000178673 SCV000532308 likely benign not specified 2018-01-12 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000178673 SCV000711050 benign not specified 2017-09-28 criteria provided, single submitter clinical testing p.Ile3376Val in Exon 48 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence and it has been identified in 0.6% 155/23890 o f African chromosomes, including 1 homozygous individual) by the Genome Aggregat ion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200528472).
Invitae RCV000890563 SCV001034318 benign not provided 2020-11-19 criteria provided, single submitter clinical testing

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