ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.219C>T (p.Ile73=) (rs750211528)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001069 SCV001158199 likely benign Charcot-Marie-Tooth disease, type 4B3 2019-03-11 criteria provided, single submitter clinical testing

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