ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.972T>C (p.His324=)

gnomAD frequency: 0.00001  dbSNP: rs764659096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001483239 SCV001687624 likely benign Primary dilated cardiomyopathy 2022-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037236 SCV003989647 likely benign not specified 2023-05-06 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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