ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.507G>A (p.Pro169=)

gnomAD frequency: 0.00002  dbSNP: rs374145904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557258 SCV001778986 likely benign not provided 2020-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568368 SCV003505615 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2023-03-31 criteria provided, single submitter clinical testing

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