ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.420G>A (p.Ala140=)

gnomAD frequency: 0.00006  dbSNP: rs765024365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697876 SCV000722081 likely benign not provided 2020-06-25 criteria provided, single submitter clinical testing
Invitae RCV002064015 SCV002368920 likely benign FGFR2-related craniosynostosis 2023-06-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491261 SCV002800632 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 2022-03-01 criteria provided, single submitter clinical testing

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