ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1557T>C (p.Ser519=)

dbSNP: rs2101711850
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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 RCV002145502 SCV002428817 likely benign Muscle AMP deaminase deficiency 2021-10-14 criteria provided, single submitter clinical testing

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