ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1170C>G (p.Leu390=)

dbSNP: rs566349141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000394386 SCV000344492 uncertain significance not provided 2016-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059280 SCV002375852 likely benign Muscle AMP deaminase deficiency 2023-10-29 criteria provided, single submitter clinical testing

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