ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.132+5G>A (rs397516284)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036044 SCV000059696 likely pathogenic Rare genetic deafness 2010-09-02 criteria provided, single submitter clinical testing The 132+5G>A variant has not been reported in the literature but was identified by our laboratory in a patient with Usher syndrome and a second MYO7A variant. T he 132+5G>A variant is located in the 5' splice region and affects the +5 positi on which is the most conserved position after the +1 and +2 positions. In summar y, this variant is likely to be pathogenic.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225545 SCV000282596 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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