ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)

gnomAD frequency: 0.00010  dbSNP: rs763571736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000867615 SCV000533813 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063561 SCV002390500 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2024-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502577 SCV002806618 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-08-23 criteria provided, single submitter clinical testing

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