ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3407G>A (p.Ser1136Asn) (rs483353055)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory; Baylor College of Medicine RCV000119824 SCV000154750 unknown Usher syndrome, type 2A criteria provided, single submitter not provided Converted during submission to Uncertain significance.
Counsyl RCV000675179 SCV000800808 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-04-18 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787729 SCV000926732 likely pathogenic Cone-rod dystrophy 2018-04-01 no assertion criteria provided research

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