ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.9390G>T (p.Pro3130=)

gnomAD frequency: 0.25371  dbSNP: rs12473286
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Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001597404 SCV001830100 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810111 SCV002057598 benign Myopathy, centronuclear, 5 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001597404 SCV002478986 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597404 SCV005246679 benign not provided criteria provided, single submitter not provided

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