ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3347G>A (p.Arg1116His) (rs387907227)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000029188 SCV000807202 pathogenic Hypertrichotic osteochondrodysplasia 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously described as disease-causing in the literature and has been identified once in our laboratory as a de novo mutation in a 7-year-old male with macrosomia, decreased white matter on MRI, pulmonary hypertension, cardiomegaly, hydronephrosis, advanced bone age, vocal cord paralysis, coarse features, and increased joint motility.
OMIM RCV000029188 SCV000051833 pathogenic Hypertrichotic osteochondrodysplasia 2012-05-18 no assertion criteria provided literature only

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