ClinVar Miner

Submissions for variant NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu)

dbSNP: rs899172501
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV001175237 SCV001338761 likely pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly no assertion criteria provided research

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