ClinVar Miner

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

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
Eurofins Ntd Llc (ga) RCV000152783 SCV000202171 benign not specified 2013-12-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361316 SCV000347351 uncertain significance Muscle AMP deaminase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000361316 SCV001731768 benign Muscle AMP deaminase deficiency 2024-01-29 criteria provided, single submitter clinical testing

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