ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003988759 SCV004805011 likely benign Pfeiffer syndrome 2024-03-17 criteria provided, single submitter research
GeneDx RCV004794670 SCV005414777 uncertain significance not provided 2024-05-21 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with an FGFR2-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 34426522, 11781872, 29230096, 28600779)

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