ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1388+8C>A

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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 RCV003882250 SCV004687478 likely benign Muscle AMP deaminase deficiency 2023-06-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003921395 SCV004732979 likely benign AMPD1-related disorder 2020-09-29 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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