ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000195889 SCV000255390 likely pathogenic Autosomal recessive distal spinal muscular atrophy 1 2013-04-16 criteria provided, single submitter clinical testing

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