ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1960-7C>T

gnomAD frequency: 0.00004  dbSNP: rs779177992
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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 RCV002232282 SCV000640371 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506338 SCV002795223 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 2022-02-15 criteria provided, single submitter clinical testing

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