ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.2289C>T (p.Arg763=)

dbSNP: rs2148590692
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IRCCS Fondazione Stella Maris, University of Pisa RCV001449644 SCV001652710 pathogenic Charcot-Marie-Tooth disease type 4B3 2018-05-16 no assertion criteria provided clinical testing SEVERE NEUROPATHY

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