ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) (rs373529561)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000917335 SCV001062610 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002298 SCV001160184 likely benign Charcot-Marie-Tooth disease, type 4B3 2020-03-06 criteria provided, single submitter clinical testing

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