ClinVar Miner

Submissions for variant NM_177433.3(MAGED2):c.816A>G (p.Pro272=)

gnomAD frequency: 0.00401  dbSNP: rs111542041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968440 SCV001115892 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505468 SCV002796467 likely benign Bartter disease type 5 2022-02-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000968440 SCV005279320 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003928442 SCV004740083 benign MAGED2-related disorder 2019-09-30 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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