ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.112G>T (p.Asp38Tyr)

dbSNP: rs1412657094
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV002269798 SCV002549046 likely pathogenic Fetal akinesia deformation sequence 1 criteria provided, single submitter research

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