ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)

gnomAD frequency: 0.00001  dbSNP: rs533866031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV004555633 SCV002515332 uncertain significance FGFR3-related disorder 2022-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502055 SCV002791275 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 2021-08-16 criteria provided, single submitter clinical testing

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