ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1239-8C>G

dbSNP: rs869312178
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000210295 SCV000259082 likely pathogenic Usher syndrome type 2C 2015-08-28 no assertion criteria provided clinical testing

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