ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.409dup (p.Ser137fs)

dbSNP: rs1571805164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001029955 SCV004208295 likely pathogenic Retinitis pigmentosa 39 2023-08-31 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029955 SCV001192753 pathogenic Retinitis pigmentosa 39 2019-07-18 no assertion criteria provided clinical testing

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