ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.309T>A (p.Ile103=)

dbSNP: rs398123115
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077977 SCV000109806 uncertain significance not provided 2013-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055089 SCV002342845 benign Muscle AMP deaminase deficiency 2023-12-10 criteria provided, single submitter clinical testing

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