ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)

dbSNP: rs2102545818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591883 SCV001816019 likely pathogenic Usher syndrome type 2A 2021-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495940 SCV002782483 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2021-09-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451822 SCV004182432 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001591883 SCV004182433 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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