ClinVar Miner

Submissions for variant NM_006721.4(ADK):c.71A>T (p.Asn24Ile)

gnomAD frequency: 0.00001  dbSNP: rs1271395440
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001170034 SCV001251758 uncertain significance Adenosine kinase deficiency 2020-05-03 criteria provided, single submitter clinical testing

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