ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1086G>A (p.Ala362=)

gnomAD frequency: 0.00003  dbSNP: rs151250769
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719029 SCV000726430 likely benign not provided 2019-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001396656 SCV001598392 likely benign FGFR2-related craniosynostosis 2022-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498954 SCV002805869 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 2021-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544773 SCV004788072 likely benign FGFR2-related disorder 2019-02-23 no assertion criteria provided 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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