ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1325A>G (p.Tyr442Cys)

dbSNP: rs1594451320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV001027459 SCV001190027 uncertain significance Distal spinal muscular atrophy no assertion criteria provided provider interpretation

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