ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1122G>A (p.Lys374=)

gnomAD frequency: 0.00079  dbSNP: rs138993729
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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) RCV000180456 SCV000232900 benign not specified 2015-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054148 SCV002335043 benign Muscle AMP deaminase deficiency 2021-12-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714533 SCV005280454 benign not provided criteria provided, single submitter not provided

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