ClinVar Miner

Submissions for variant NM_213569.2(NEBL):c.125A>G (p.Asn42Ser)

gnomAD frequency: 0.00004  dbSNP: rs727503340
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Total submissions: 1
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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 RCV000151555 SCV000199692 uncertain significance not specified 2013-09-09 criteria provided, single submitter clinical testing The Asn42Ser variant in NEBL has not been reported in individuals with cardiomyo pathy or in large population studies. Computational analyses are limited or unav ailable for this variant. Additional information is needed to fully assess the c linical significance this variant.

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