ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1389-16T>A

gnomAD frequency: 0.00006  dbSNP: rs778223264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513967 SCV000609766 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060188 SCV002416644 likely benign Muscle AMP deaminase deficiency 2023-08-14 criteria provided, single submitter clinical testing

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