ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.547+13T>C

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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 RCV003517630 SCV004327786 likely benign Muscle AMP deaminase deficiency 2024-01-13 criteria provided, single submitter clinical testing

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