ClinVar Miner

Submissions for variant 46;XX;t(4;13)(q31.3;q14.3)dn

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital RCV000258631 SCV000320891 uncertain significance Short stature; Growth delay; Abnormal facial shape; Microcephaly; Intellectual disability; Decreased body weight; Abnormal digit morphology; Heart murmur 2016-08-20 criteria provided, single submitter research

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