ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2187+1G>T

dbSNP: rs111033290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
King Laboratory, University of Washington RCV001809892 SCV002059923 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2 2020-08-01 criteria provided, single submitter research MYO7A c.2187+1G>T is predicted to disrupt the splice donor of MYO7A exon 18 resulting in a 93bp message deletion and loss of aa 699-729 of the myosin motor domain (Abu Rayyan 2020). The variant is homozygous in a Palestinian child with pre-lingual hearing loss. It is absent from 1300 Palestinian controls and from gnomAD v2.1.1.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003085 SCV001161144 pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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