ClinVar Miner

Submissions for variant NM_014915.3(ANKRD26):c.1998A>G (p.Lys666=)

gnomAD frequency: 0.00052  dbSNP: rs372489280
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773144 SCV002003870 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001773144 SCV003285259 benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004946734 SCV005448016 likely benign Inborn genetic diseases 2024-10-02 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.
PreventionGenetics, part of Exact Sciences RCV003976161 SCV004788439 likely benign ANKRD26-related disorder 2019-04-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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