ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.5del (p.Pro2fs)

dbSNP: rs557878856
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002066370 SCV002349114 benign Muscle AMP deaminase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002066370 SCV003826247 uncertain significance Muscle AMP deaminase deficiency 2021-06-29 criteria provided, single submitter clinical testing

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