ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1464G>A (p.Glu488=)

gnomAD frequency: 0.00682  dbSNP: rs80266556
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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) RCV000152782 SCV000202170 benign not specified 2013-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000354278 SCV001122657 benign Muscle AMP deaminase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713383 SCV005280449 benign not provided criteria provided, single submitter not provided

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