ClinVar Miner

Submissions for variant NM_014915.3(ANKRD26):c.2855A>C (p.Lys952Thr)

gnomAD frequency: 0.00035  dbSNP: rs564448342
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794612 SCV002032459 uncertain significance not provided 2021-06-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001794612 SCV003272212 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001794612 SCV004126571 benign not provided 2022-08-01 criteria provided, single submitter clinical testing ANKRD26: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003911014 SCV004723142 likely benign ANKRD26-related disorder 2019-06-19 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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