ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.174A>T (p.Ile58=)

dbSNP: rs375898522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093366 SCV002390111 likely benign Muscle AMP deaminase deficiency 2023-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913631 SCV004730520 likely benign AMPD1-related disorder 2023-12-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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