ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter) (rs557416644)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625148 SCV000743876 likely pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1 2017-07-28 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789658 SCV000929030 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only

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