ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) (rs146082509)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039535 SCV000063224 likely benign not specified 2017-06-20 criteria provided, single submitter clinical testing p.Ser5157Ser in exon 74 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not predicte d to impact splicing. It has been identified in 0.2% (40/18870) of East Asian c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit; dbSNP rs146082509).
Invitae RCV000909162 SCV001053956 benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074477 SCV001240062 uncertain significance Retinal dystrophy 2017-09-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001153321 SCV001314605 uncertain significance Usher syndrome, type 2C 2018-01-13 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.
GeneDx RCV000909162 SCV001845346 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039535 SCV001880705 benign not specified 2021-05-19 criteria provided, single submitter clinical testing

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