ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2905-1G>A

gnomAD frequency: 0.00003  dbSNP: rs1171417339
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504686 SCV000599118 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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