ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11911-17T>C

gnomAD frequency: 0.00036  dbSNP: rs144836165
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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 RCV000250926 SCV000307198 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000250926 SCV000715490 likely benign not specified 2017-11-03 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 RCV002058004 SCV002322441 benign Nemaline myopathy 2 2024-02-01 criteria provided, single submitter clinical testing

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