ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.224G>A (p.Arg75His)

dbSNP: rs61738827
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152784 SCV000202172 benign not specified 2015-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000266611 SCV001100676 benign Muscle AMP deaminase deficiency 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002510793 SCV002821412 benign not provided 2024-08-01 criteria provided, single submitter clinical testing AMPD1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002510793 SCV005280459 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003917486 SCV004733854 benign AMPD1-related disorder 2022-03-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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