ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del)

dbSNP: rs1575202038
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984981 SCV001132905 uncertain significance Myopathy, centronuclear, 5 2019-08-25 no assertion criteria provided clinical testing

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