ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13396C>T (p.Pro4466Ser) (rs138398671)

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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 RCV000041740 SCV000065436 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing Pro4466Ser in exon 63 of USH2A: This variant has been identified in 0.04% (3/702 0) of European American chromosomes in a broad population by the NHLBI Exome seq uencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs138398671). This var iant is not expected to have clinical significance due to a lack of conservation of the amino acid position. Of note, chicken has a serine (Ser) at this positio n despite high nearby amino acid conservation.
Counsyl RCV000672135 SCV000797202 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-30 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505044 SCV000598788 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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