ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.2329T>C (p.Leu777=)

gnomAD frequency: 0.00722  dbSNP: rs76346657
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712250 SCV000842695 benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000712250 SCV001001407 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000712250 SCV002007069 likely benign not provided 2020-11-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117568 SCV000151787 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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