ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter) (rs199839840)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000789336 SCV000928689 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only
Genesis Genome Database RCV000856977 SCV000999544 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985181 SCV001133196 likely pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1 2019-09-26 no assertion criteria provided clinical testing

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