ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn)

gnomAD frequency: 0.00007  dbSNP: rs376789465
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401460 SCV001603285 likely benign Muscle AMP deaminase deficiency 2024-01-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001401460 SCV003826245 uncertain significance Muscle AMP deaminase deficiency 2019-08-14 criteria provided, single submitter clinical testing

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