ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.639A>C (p.Pro213=)

gnomAD frequency: 0.00091  dbSNP: rs886042708
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327641 SCV000336098 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872520 SCV001014343 benign not provided 2024-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000872520 SCV001748435 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing MAGEL2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000872520 SCV005211601 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000872520 SCV001917317 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000872520 SCV001972450 likely benign not provided no assertion criteria provided clinical testing

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