ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs)

dbSNP: rs1553272035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658549 SCV000780325 likely pathogenic not provided 2017-12-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199807 SCV001162747 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Genome-Nilou Lab RCV003451622 SCV004182785 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing

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