ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.99A>G (p.Gly33=)

gnomAD frequency: 0.00310  dbSNP: rs61752480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077973 SCV000109802 benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971717 SCV001119378 benign Muscle AMP deaminase deficiency 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002055088 SCV002496905 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing AMPD1: BP4, BP7, BS2

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