ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) (rs376535635)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000408981 SCV000487466 likely pathogenic Usher syndrome type 1 2016-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000410532 SCV000487467 likely pathogenic Deafness, autosomal recessive 2 2016-11-02 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV000408981 SCV001161147 pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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