ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1272A>G (p.Gly424=)

gnomAD frequency: 0.00006  dbSNP: rs727504866
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156227 SCV000205943 likely benign not specified 2013-12-20 criteria provided, single submitter clinical testing Gly424Gly in exon 13 of NEBL: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Gly424Gly in exon 13 of NEBL (allele frequenc y = n/a)
GeneDx RCV001651029 SCV001864436 likely benign not provided 2020-05-19 criteria provided, single submitter clinical testing
Invitae RCV002056118 SCV002457590 benign Primary dilated cardiomyopathy 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444644 SCV002682907 likely benign Inborn genetic diseases 2022-02-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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