ClinVar Miner

Submissions for variant NM_006721.4(ADK):c.195-18A>G

gnomAD frequency: 0.00844  dbSNP: rs144492760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514007 SCV000610012 likely benign not provided 2017-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514007 SCV002372038 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227173 SCV002506038 benign Adenosine kinase deficiency 2023-10-20 criteria provided, single submitter clinical testing

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