ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2049-13C>T

gnomAD frequency: 0.00006  dbSNP: rs756845879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562102 SCV001784819 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859397 SCV002230571 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2024-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506665 SCV002811778 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2022-05-04 criteria provided, single submitter clinical testing

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