ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) (rs201089046)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150767 SCV000198254 likely benign not specified 2016-08-02 criteria provided, single submitter clinical testing p.Thr3186Thr in exon 44 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 has been identified in 0.1% (7/9748) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs201089046).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728496 SCV000856076 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151753 SCV001312918 uncertain significance Usher syndrome, type 2C 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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