ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3680dup (p.Cys1228fs)

dbSNP: rs1553313793
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673641 SCV000798868 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-03-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472158 SCV004200694 pathogenic Retinitis pigmentosa 39 2023-06-03 criteria provided, single submitter clinical testing

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