ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.759T>C (p.Pro253=)

gnomAD frequency: 0.02947  dbSNP: rs115972674
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556318 SCV000655516 benign Nemaline myopathy 10 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001619790 SCV001843939 benign not provided 2019-07-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619790 SCV005302262 benign not provided criteria provided, single submitter not provided

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