ClinVar Miner

Submissions for variant NM_016616.5(NME8):c.128G>A (p.Arg43Lys)

gnomAD frequency: 0.28270  dbSNP: rs2722372
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Total submissions: 6
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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 RCV000151565 SCV000199715 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg43Lys in exon 5 of TXNDC3: This variant is not expected to have clinical sign ificance because it has been identified in 36.9% (1624/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs2722372).
PreventionGenetics, part of Exact Sciences RCV000151565 SCV000312726 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001421027 SCV001623501 benign Primary ciliary dyskinesia 6 2021-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001421027 SCV001717583 benign Primary ciliary dyskinesia 6 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001651015 SCV001866803 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381472 SCV002694112 benign Primary ciliary dyskinesia 2014-12-10 criteria provided, single submitter clinical testing This alteration is classified as 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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