ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.202A>G (p.Met68Val)

gnomAD frequency: 0.00001  dbSNP: rs548856916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000898850 SCV001043081 likely benign Reticular dysgenesis 2023-12-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000898850 SCV001529094 uncertain significance Reticular dysgenesis 2018-07-25 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 RCV003958102 SCV004772618 likely benign AK2-related condition 2019-11-16 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).

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