ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13185T>C (p.Pro4395=)

dbSNP: rs1344892267
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 RCV000953797 SCV001100386 likely benign Nemaline myopathy 2 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000953797 SCV001460861 likely benign Nemaline myopathy 2 2020-05-02 no assertion criteria provided clinical testing

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