ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys)

gnomAD frequency: 0.00001  dbSNP: rs780153672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772663 SCV001993262 uncertain significance not provided 2022-11-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002489759 SCV002778987 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-12-29 criteria provided, single submitter clinical testing

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