ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.49C>G (p.Arg17Gly)

gnomAD frequency: 0.00133  dbSNP: rs138577419
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537869 SCV000632343 likely benign Reticular dysgenesis 2024-01-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000537869 SCV001529096 uncertain significance Reticular dysgenesis 2018-07-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003942766 SCV004772446 likely benign AK2-related condition 2022-02-09 criteria provided, single submitter 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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726221 SCV001963026 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726221 SCV001966644 uncertain significance not provided no assertion criteria provided clinical testing

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