ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) (rs41305898)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039581 SCV000063270 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing p.Ser1405Phe in exon 20 of GPR98: This variant is not likely to have clinical si gnificance because it was identified in 0.17% (104/61754) European chromosomes b y the Exome Aggregation Consortium (ExAC,; dbSNP rs41305898).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723975 SCV000227723 uncertain significance not provided 2016-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282346 SCV000883366 likely benign none provided 2019-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000723975 SCV000968944 likely benign not provided 2020-11-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22135276)
Invitae RCV000723975 SCV001046119 benign not provided 2020-11-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723975 SCV001154435 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151335 SCV001312456 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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