ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.195C>T (p.Ser65=)

gnomAD frequency: 0.00044  dbSNP: rs150208948
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 RCV000381199 SCV001047152 benign Muscle AMP deaminase deficiency 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409428 SCV004124237 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing AMPD1: BP4, BP7

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