ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) (rs146489206)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000891826 SCV001035664 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000499 SCV001157393 benign Charcot-Marie-Tooth disease, type 4B3 2020-08-10 criteria provided, single submitter clinical testing

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