ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.243T>G (p.Thr81=)

gnomAD frequency: 0.00686  dbSNP: rs115655141
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 RCV000960526 SCV001107507 benign Muscle AMP deaminase deficiency 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715361 SCV005280458 benign not provided criteria provided, single submitter not provided

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