ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.348C>T (p.Arg116=)

gnomAD frequency: 0.01752  dbSNP: rs2305179
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176993 SCV000228793 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000176993 SCV000302629 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000176993 SCV000516528 benign not specified 2016-09-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001573046 SCV000640379 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001573046 SCV001156949 benign not provided 2023-11-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277385 SCV002566631 benign Connective tissue disorder 2021-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492768 SCV002799263 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 2021-12-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573046 SCV001798348 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000176993 SCV001808332 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000176993 SCV001971696 benign not specified no assertion criteria provided clinical testing

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