ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) (rs1060499801)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674950 SCV000800366 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2018-06-01 criteria provided, single submitter clinical testing
Hereditary Research Laboratory,Bethlehem University RCV000454216 SCV000538103 pathogenic Deafness, autosomal recessive 2 2016-06-04 no assertion criteria provided research congenital, profound
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003090 SCV001161151 pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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