ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.215+8G>A

gnomAD frequency: 0.00001  dbSNP: rs781556684
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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) RCV000341466 SCV000331471 uncertain significance not provided 2015-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519082 SCV003469148 likely benign Muscle AMP deaminase deficiency 2022-12-07 criteria provided, single submitter clinical testing

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