ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.900A>G (p.Glu300=)

gnomAD frequency: 0.00217  dbSNP: rs111635934
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000117575 SCV000231105 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing
Invitae RCV000885452 SCV001028892 benign not provided 2023-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498517 SCV002811398 likely benign Nephrotic syndrome 15 2021-10-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117575 SCV000151797 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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