ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9919T>A (p.Cys3307Ser) (rs1553263572)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio Extremeño de Salud,Hospital de Mérida RCV000661902 SCV000693692 likely pathogenic Retinitis pigmentosa 39 2018-03-06 criteria provided, single submitter clinical testing Two members of the same family with retinitis pigmentosa and no known hearing loss, has this mutation as heterozygous compound with the known pathogenic mutation c.2299delG in USH2A gene. Segregation study in two other members of the family provided that each one had only one of the 2 mutations in heterozygosity, being healthy carriers.

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