ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1782T>C (p.His594=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003822011 SCV004628141 likely benign Muscle AMP deaminase deficiency 2023-04-25 criteria provided, single submitter clinical testing

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