ClinVar Miner

Submissions for variant der(6)t(6;7)(p25.3;q32.3)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001310285 SCV001500021 pathogenic Intellectual disability 2021-03-04 no assertion criteria provided clinical testing The translocation 46,XY,der(6)t(6;7)(p25.3;q32.3).arr[GRCh37] 6p25.3(108666_805207)x1, 7q32.3q36.3(130917360_158759063)x3 was identified in an individual with NDD. Inheritance was not applicable (heterozygous). The variant was reviewed according to current ClinGen recommendations and classified as Pathogenic (criteria: 1A(0), 2A(1), 3C(0.9), 4E(0.1), 5F(0), Total score=2).

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