ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1155C>G (p.Val385=)

gnomAD frequency: 0.00001  dbSNP: rs531426519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001797298 SCV002038742 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506831 SCV002804764 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 2021-11-05 criteria provided, single submitter clinical testing
Invitae RCV002544341 SCV002997775 likely benign FGFR2-related craniosynostosis 2022-09-30 criteria provided, single submitter clinical testing

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