ClinVar Miner

Submissions for variant NM_014332.3(SMPX):c.133-1G>A

dbSNP: rs1060499590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477909 SCV000536819 likely pathogenic Hearing loss, X-linked 4 2015-07-21 no assertion criteria provided research

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