ClinVar Miner

Submissions for variant NM_001822.7(CHN1):c.754C>T (p.Pro252Ser)

dbSNP: rs387906600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000022464 SCV005416589 uncertain significance Duane retraction syndrome 2 criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PP1+PP4
OMIM RCV000022464 SCV000043753 pathogenic Duane retraction syndrome 2 2011-05-01 no assertion criteria provided literature only

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