ClinVar Miner

Submissions for variant NM_177433.3(MAGED2):c.130A>G (p.Lys44Glu)

gnomAD frequency: 0.00280  dbSNP: rs11555928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513922 SCV000610903 likely benign not provided 2017-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513922 SCV001119508 benign not provided 2024-12-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000513922 SCV005210536 likely benign not provided criteria provided, single submitter not provided

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