ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7027del (p.Arg2343fs)

dbSNP: rs1667316878
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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, Institute for Ophthalmic Research RCV001199592 SCV001162763 pathogenic Usher syndrome type 2 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001091131 SCV001246999 pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455057 SCV004181576 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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