ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1911C>T (p.Asn637=)

gnomAD frequency: 0.00026  dbSNP: rs149008039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003103856 SCV001014454 likely benign FGFR2-related craniosynostosis 2023-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000872610 SCV001814463 likely benign not provided 2021-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501322 SCV002805802 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 2021-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965752 SCV004789448 likely benign FGFR2-related condition 2023-12-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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