ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.383T>C (p.Leu128Pro)

gnomAD frequency: 0.00841  dbSNP: rs191559595
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146267 SCV000193530 likely benign not specified 2014-01-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000146267 SCV000336246 benign not specified 2015-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876337 SCV001018898 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000876337 SCV001825355 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000876337 SCV005211602 likely benign not provided criteria provided, single submitter not provided

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