ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1959+15G>C

gnomAD frequency: 0.00158  dbSNP: rs17886888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002237294 SCV002507632 benign not provided 2023-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487031 SCV002798778 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 2021-12-08 criteria provided, single submitter clinical testing

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