ClinVar Miner

Submissions for variant NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) (rs587777884)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988191 SCV001137825 benign Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 2019-05-28 criteria provided, single submitter clinical testing
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143797 SCV000188689 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Inherited Neuropathy Consortium RCV000789729 SCV000929106 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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