ClinVar Miner

Submissions for variant NM_177402.5(SYT2):c.1084_1089del (p.Tyr362_Asp363del)

dbSNP: rs1057518805
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415021 SCV000492616 likely pathogenic Respiratory distress; Muscle weakness 2016-01-18 no assertion criteria provided clinical testing

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