ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8391del (p.Gly2799fs)

dbSNP: rs1553272176
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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 RCV000673948 SCV000799209 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-04-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465533 SCV004206313 likely pathogenic Retinitis pigmentosa 39 2023-02-27 criteria provided, single submitter clinical testing

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