ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1813_1814del (p.Ile605fs)

dbSNP: rs2146599783
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543538 SCV001762163 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing

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