ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu)

gnomAD frequency: 0.00001  dbSNP: rs886044350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000308586 SCV000344619 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137900 SCV003826237 uncertain significance Muscle AMP deaminase deficiency 2019-05-13 criteria provided, single submitter clinical testing

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