ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) (rs762551629)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598390 SCV000706342 likely pathogenic not provided 2017-02-08 criteria provided, single submitter clinical testing
Counsyl RCV000984228 SCV001132304 likely pathogenic Usher syndrome, type 1C 2017-01-17 no assertion criteria provided clinical testing
Counsyl RCV000984229 SCV001132305 likely pathogenic Deafness, autosomal recessive 18 2017-01-17 no assertion criteria provided clinical testing

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