ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.3046C>T (p.Pro1016Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002609246 SCV002966169 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002609246 SCV004129358 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing MAGEL2: BP4

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