ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) (rs41298133)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036246 SCV000059898 pathogenic Rare genetic deafness 2010-03-11 criteria provided, single submitter clinical testing
Counsyl RCV000669392 SCV000794140 pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-09-15 criteria provided, single submitter clinical testing
OMIM RCV000012622 SCV000032857 pathogenic Usher syndrome, type 1B 1995-10-10 no assertion criteria provided literature only
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003081 SCV001161140 pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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