ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1746C>T (p.Pro582=)

dbSNP: rs369850306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001411301 SCV001613360 likely benign FGFR2-related craniosynostosis 2024-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499880 SCV002805184 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 2021-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540276 SCV004783902 likely benign FGFR2-related disorder 2020-06-12 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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