ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.2830T>C (p.Ser944Pro)

gnomAD frequency: 0.00002  dbSNP: rs751956751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175069 SCV000226497 uncertain significance not provided 2015-03-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500472 SCV002791819 uncertain significance Nephrotic syndrome 15 2024-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175069 SCV005735912 benign not provided 2024-07-20 criteria provided, single submitter clinical testing

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