ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) (rs369232922)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658073 SCV000779844 likely benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765768 SCV000897156 uncertain significance Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cancer of cervix; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Urinary bladder cancer; Hypochondroplasia; Epidermal nevus; Severe achondroplasia with developmental delay and acanthosis nigricans; Malignant tumor of testis; Carcinoma of colon 2018-10-31 criteria provided, single submitter clinical testing

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