ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.4332A>C (p.Lys1444Asn)

dbSNP: rs1853955123
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172807 SCV001335876 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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