ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.3721G>A (p.Gly1241Ser)

gnomAD frequency: 0.00011  dbSNP: rs555657199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000910514 SCV001055384 likely benign not provided 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000910514 SCV001941183 benign not provided 2020-10-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function

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