ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.2232C>T (p.Pro744=)

gnomAD frequency: 0.00035  dbSNP: rs142639988
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000893759 SCV001803096 likely benign not provided 2021-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065602 SCV002403795 benign FGFR2-related craniosynostosis 2024-03-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495406 SCV002804335 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 2021-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000893759 SCV005220249 likely benign not provided criteria provided, single submitter not provided

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