ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)

gnomAD frequency: 0.00031  dbSNP: rs121912682
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173624 SCV000224749 uncertain significance not provided 2014-11-10 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000019935 SCV000267211 likely pathogenic Muscle AMP deaminase deficiency 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV000019935 SCV001723691 benign Muscle AMP deaminase deficiency 2025-01-24 criteria provided, single submitter clinical testing
Mendelics RCV002247372 SCV002516862 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000019935 SCV003826230 uncertain significance Muscle AMP deaminase deficiency 2020-01-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000019935 SCV005636363 uncertain significance Muscle AMP deaminase deficiency 2024-03-21 criteria provided, single submitter clinical testing
OMIM RCV000019935 SCV000040233 pathogenic Muscle AMP deaminase deficiency 2000-12-01 no assertion criteria provided literature only

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