ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5086A>G (p.Ile1696Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002908002 SCV003245809 likely benign Nemaline myopathy 2 2024-01-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481344 SCV004224969 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing BP4

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