ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1601del (p.Pro534fs)

dbSNP: rs1890397401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267304 SCV001445485 pathogenic Inborn genetic diseases 2019-01-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001249368 SCV001423356 not provided Schaaf-Yang syndrome no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 02-23-2019 by Lab or GTR ID 61756. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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