ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1761C>T (p.Ser587=)

gnomAD frequency: 0.00027  dbSNP: rs147173572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537518 SCV001043216 benign FGFR2-related craniosynostosis 2023-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502642 SCV002808121 likely benign 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 2022-01-05 criteria provided, single submitter clinical testing

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