ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.382-6dup

dbSNP: rs727503806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000320664 SCV000347350 uncertain significance Muscle AMP deaminase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514572 SCV000610413 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000320664 SCV002406896 benign Muscle AMP deaminase deficiency 2023-12-31 criteria provided, single submitter clinical testing

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