ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)

gnomAD frequency: 0.00034  dbSNP: rs150652786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518855 SCV001727629 benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2023-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501811 SCV002810708 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-09-03 criteria provided, single submitter clinical testing

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