ClinVar Miner

Submissions for variant NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) (rs1556235551)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499961 SCV000597810 pathogenic Syndromic mental retardation, Nascimento type, X-linked 2016-02-18 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509156 SCV000607371 not provided not provided no assertion provided phenotyping only 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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