ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu)

dbSNP: rs1376293618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV001614472 SCV001837631 uncertain significance Myopathy, centronuclear, 5 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003883698 SCV004698116 uncertain significance Myopathy, centronuclear, 2 2024-02-12 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PM3_SUP,PP3

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