ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) (rs886041502)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000264474 SCV000330167 pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this variant has not been previously reported to our knowledge, we consider it to the pathogenic.
Human Genetics - Radboudumc,Radboudumc RCV000678656 SCV000804747 pathogenic Retinitis pigmentosa 39 2016-09-01 no assertion criteria provided clinical testing

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