ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1947T>C (p.Asp649=)

gnomAD frequency: 0.00557  dbSNP: rs34287100
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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) RCV000077974 SCV000109803 benign not specified 2013-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971866 SCV001119542 benign Muscle AMP deaminase deficiency 2024-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713189 SCV005280445 benign not provided criteria provided, single submitter not provided

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