ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.390C>G (p.Ser130=)

dbSNP: rs1029635273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003768738 SCV001020577 likely benign FGFR2-related craniosynostosis 2023-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495326 SCV002799238 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 2021-12-06 criteria provided, single submitter clinical testing

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