ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu)

gnomAD frequency: 0.00004  dbSNP: rs376157878
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
Invitae RCV001215826 SCV001387589 likely benign Nemaline myopathy 2 2023-10-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001215826 SCV002084083 uncertain significance Nemaline myopathy 2 2020-09-25 no assertion criteria provided clinical testing

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