ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.*1770G>A (rs183394116)

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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 RCV000320348 SCV000473443 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358861 SCV000473444 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266477 SCV000473445 likely benign Nonsyndromic Trigonocephaly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324013 SCV000473446 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380948 SCV000473447 likely benign Osteoglophonic dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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