ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.*1439T>C (rs11990198)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000275820 SCV000473468 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333306 SCV000473469 likely benign Nonsyndromic Trigonocephaly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371644 SCV000473470 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279514 SCV000473471 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337442 SCV000473472 likely benign Osteoglophonic dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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