ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1545C>T (p.Ala515=)

gnomAD frequency: 0.00003  dbSNP: rs778789088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005092905 SCV001092325 likely benign FGFR2-related craniosynostosis 2024-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489288 SCV002803410 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 2021-11-16 criteria provided, single submitter clinical testing

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