ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)

dbSNP: rs1553320542
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625605 SCV000746105 pathogenic Usher syndrome type 2A 2017-09-18 no assertion criteria provided clinical testing

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