ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1827C>G (p.Ala609=)

gnomAD frequency: 0.00005  dbSNP: rs750472969
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002237288 SCV002507739 likely benign not provided 2022-04-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277096 SCV002566628 uncertain significance Connective tissue disorder 2019-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505890 SCV002813616 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 2022-01-06 criteria provided, single submitter clinical testing

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