ClinVar Miner

Submissions for variant NM_001190919.1(THRA):c.54-1G>A (rs199530759)

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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 RCV000680127 SCV000807570 pathogenic Hypothyroidism, congenital, nongoitrous, 6 2017-09-01 criteria provided, single submitter clinical testing This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory paternally inherited in a 5-year-old female with global delays, hypotonia, short stature, growth hormone deficiency, hypothyroidism, proteing-losing enteropathy, fat intolerance, bicuspid aortic valve, mild hematuria, mild von Willebrand disease, hoarse voice, non-obstructive hydrocephalus/possible superior vena cava syndrome.
Invitae RCV000896249 SCV001040331 benign not provided 2018-07-16 criteria provided, single submitter clinical testing

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