ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.381+1G>C

gnomAD frequency: 0.00125  dbSNP: rs143303736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000924244 SCV001069754 likely benign Muscle AMP deaminase deficiency 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001759669 SCV001996491 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000924244 SCV003826273 uncertain significance Muscle AMP deaminase deficiency 2020-09-09 criteria provided, single submitter clinical testing

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