ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1834G>A (p.Glu612Lys)

gnomAD frequency: 0.00004  dbSNP: rs778658096
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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 RCV000558019 SCV000623468 likely benign Primary dilated cardiomyopathy 2023-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023671 SCV003754725 uncertain significance not specified 2022-12-19 criteria provided, single submitter clinical testing The c.1834G>A (p.E612K) alteration is located in exon 18 (coding exon 18) of the NEBL gene. This alteration results from a G to A substitution at nucleotide position 1834, causing the glutamic acid (E) at amino acid position 612 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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