ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1819T>C (p.Leu607=)

gnomAD frequency: 0.00025  dbSNP: rs141900642
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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) RCV000398833 SCV000343559 uncertain significance not provided 2016-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059259 SCV002475877 likely benign Muscle AMP deaminase deficiency 2024-01-10 criteria provided, single submitter clinical testing

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