ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) (rs121909641)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chan Lab,Boston Children's Hospital RCV000156970 SCV000206691 likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia 2014-11-01 criteria provided, single submitter case-control
Fulgent Genetics,Fulgent Genetics RCV000763182 SCV000893782 likely pathogenic Kallmann syndrome 2; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000030936 SCV000037969 risk factor Hypogonadotropic hypogonadism 2 with anosmia 2006-10-01 no assertion criteria provided literature only

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