ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.138A>C (p.Gln46His)

gnomAD frequency: 0.00001  dbSNP: rs748117555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000415491 SCV000328366 uncertain significance Craniosynostosis, nonspecific 2016-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861461 SCV002210052 likely benign FGFR2-related craniosynostosis 2023-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481290 SCV002791352 uncertain significance Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer 2022-02-09 criteria provided, single submitter clinical testing

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