ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.990G>T (p.Val330=)

gnomAD frequency: 0.00005  dbSNP: rs754808704
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002151712 SCV002462406 likely benign Muscle AMP deaminase deficiency 2021-05-31 criteria provided, single submitter clinical testing

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