ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1971C>G (p.Thr657=)

gnomAD frequency: 0.00001  dbSNP: rs756521034
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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 RCV002164662 SCV002333352 likely benign Muscle AMP deaminase deficiency 2021-03-17 criteria provided, single submitter clinical testing

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