ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20263-18G>A

gnomAD frequency: 0.00047  dbSNP: rs377143618
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242997 SCV000307288 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242997 SCV000728337 likely benign not specified 2018-03-13 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 RCV003105838 SCV003780774 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing

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