ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.110-22TC[3]

dbSNP: rs773932794
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275299 SCV000361021 uncertain significance Acrocephalosyndactyly type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311649 SCV000361022 uncertain significance Levy-Hollister syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356791 SCV000361023 uncertain significance Craniosynostosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261993 SCV000361024 uncertain significance Isolated coronal synostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317100 SCV000361025 uncertain significance Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371758 SCV000361026 uncertain significance Crouzon syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267981 SCV000361027 uncertain significance Jackson-Weiss syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323000 SCV000361028 uncertain significance Saethre-Chotzen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377753 SCV000361029 uncertain significance Beare-Stevenson cutis gyrata syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059527 SCV002388539 likely benign FGFR2-related craniosynostosis 2023-11-01 criteria provided, single submitter clinical testing

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