ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly)

dbSNP: rs1556430522
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626062 SCV000746684 uncertain significance Charcot-Marie-Tooth disease type 4B3 2017-12-18 criteria provided, single submitter clinical testing

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