ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.681G>A (p.Val227=)

gnomAD frequency: 0.00001  dbSNP: rs769896881
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 RCV001455501 SCV001659262 likely benign Charcot-Marie-Tooth disease type 2 2024-11-10 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404609 SCV006068958 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing BP7

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