ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)

dbSNP: rs104894651
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003048 SCV000023206 pathogenic Usher syndrome type 1G 2003-03-01 no assertion criteria provided literature only

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