ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=)

gnomAD frequency: 0.86492  dbSNP: rs2074641
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712256 SCV000842701 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000712256 SCV001914920 benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775585 SCV002014090 benign Nephrotic syndrome 15 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV000712256 SCV002407655 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117573 SCV000151792 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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