ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.1880G>C (p.Arg627Thr) (rs869025671)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Muenke lab,National Institutes of Health RCV000208873 SCV000693755 pathogenic Hartsfield syndrome 2018-03-09 criteria provided, single submitter research Kinase domain; interferes with kinase activity of receptor dimers.
Baylor Genetics RCV000208873 SCV000807321 uncertain significance Hartsfield syndrome 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 6-year-old male with global delays, holoprosencephaly, bilateral cleft lip and palate, ectrodactyly, microtia, bilateral undescended testes, hypertonia, hyperreflexia
GeneReviews RCV000208873 SCV000264789 pathogenic Hartsfield syndrome 2016-01-06 no assertion criteria provided literature only

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