ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1935C>T (p.Leu645=)

gnomAD frequency: 0.00002  dbSNP: rs104886006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001650977 SCV001870718 benign not provided 2019-04-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483203 SCV002795928 likely benign 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 2021-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001650977 SCV003009958 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Laboratory of Translational Genomics, National Cancer Institute RCV000119361 SCV000154258 not provided Sarcoma no assertion provided not provided

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