ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)

gnomAD frequency: 0.00012  dbSNP: rs886038447
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253571 SCV000307296 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000253571 SCV000721423 likely benign not specified 2017-07-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000697368 SCV000825973 benign Nemaline myopathy 2 2024-01-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133201 SCV003813578 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000697368 SCV001460598 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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