ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.630C>T (p.Ile210=)

dbSNP: rs746330303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635197 SCV000756575 likely benign Reticular dysgenesis 2023-12-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711249 SCV005262985 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935778 SCV004751374 likely benign AK2-related disorder 2021-09-11 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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