ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1627-5T>A (rs187221008)

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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 RCV000150390 SCV000197551 benign not specified 2013-12-26 criteria provided, single submitter clinical testing 1627-5T>A in Intron 7 of DFNB31: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (26/8600) of European America ns by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbS NP rs187221008), and computational tools do not suggest an impact to splicing.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723851 SCV000202615 uncertain significance not provided 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV000723851 SCV001117389 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001167987 SCV001330540 uncertain significance Deafness, autosomal recessive 31 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001167988 SCV001330541 uncertain significance Usher syndrome, type 2D 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723851 SCV001334765 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225418 SCV000282658 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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