ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.1149C>T (p.Arg383=)

gnomAD frequency: 0.00001  dbSNP: rs1295142218
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002159381 SCV002333858 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003492729 SCV004237639 uncertain significance Myopathy, centronuclear, 5 2023-04-11 criteria provided, single submitter clinical testing

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