ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly)

gnomAD frequency: 0.00001  dbSNP: rs772276122
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767760 SCV001999542 uncertain significance not provided 2019-11-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001767760 SCV002542087 uncertain significance not provided 2021-07-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489778 SCV002788517 uncertain significance Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis 2022-01-05 criteria provided, single submitter clinical testing

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