ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.216-5C>T

gnomAD frequency: 0.00001  dbSNP: rs553915536
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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 RCV002175376 SCV002341771 likely benign Muscle AMP deaminase deficiency 2022-08-05 criteria provided, single submitter clinical testing

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