ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.552T>C (p.Phe184=)

gnomAD frequency: 0.00657  dbSNP: rs35197706
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634524 SCV000755840 benign Muscle AMP deaminase deficiency 2024-01-23 criteria provided, single submitter clinical testing

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