ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21051T>C (p.Pro7017=)

gnomAD frequency: 0.00001  dbSNP: rs767655200
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 RCV001279749 SCV001610365 likely benign Nemaline myopathy 2 2023-09-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279749 SCV001466870 uncertain significance Nemaline myopathy 2 2020-08-13 no assertion criteria provided clinical testing

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