ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.92-14C>T

gnomAD frequency: 0.00004  dbSNP: rs547772178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002167534 SCV002340716 benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494046 SCV002803688 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-08-27 criteria provided, single submitter clinical testing

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