ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1035+16C>A

gnomAD frequency: 0.00131  dbSNP: rs141976907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429900 SCV000531240 likely benign not specified 2017-04-13 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 RCV002063438 SCV002406026 benign Nemaline myopathy 2 2025-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711080 SCV005256346 likely benign not provided criteria provided, single submitter not provided

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