ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2347-9C>T

gnomAD frequency: 0.00004  dbSNP: rs750957531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000869342 SCV000723296 likely benign not provided 2019-10-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600732 SCV000731439 likely benign not specified 2017-01-30 criteria provided, single submitter clinical testing c.2347-9C>T in intron 23 of NEB1: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing. It has been identified in 4/64322 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs750957531).
Labcorp Genetics (formerly Invitae), Labcorp RCV001436238 SCV001639075 likely benign Primary dilated cardiomyopathy 2022-09-13 criteria provided, single submitter clinical testing

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