ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.378G>T (p.Glu126Asp)

gnomAD frequency: 0.00004  dbSNP: rs758823379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760444 SCV001991355 uncertain significance not provided 2019-06-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005040353 SCV005680253 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2024-04-29 criteria provided, single submitter clinical testing

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