ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2475C>T (p.His825=)

dbSNP: rs727503334
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Total submissions: 3
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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 RCV000151529 SCV000199646 likely benign not specified 2013-08-23 criteria provided, single submitter clinical testing His825His in exon 24 of NEBL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. His825His in exon 24 of NEBL (allele frequen cy = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV001455920 SCV001659690 likely benign Primary dilated cardiomyopathy 2019-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000151529 SCV002737478 likely benign not specified 2022-03-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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