ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.*2104del

gnomAD frequency: 0.00099  dbSNP: rs201364530
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000364448 SCV000473418 likely benign Craniosynostosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390120 SCV000473419 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311092 SCV000473420 likely benign Osteoglophonic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368061 SCV000473421 likely benign Interfrontal craniofaciosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275902 SCV000473422 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing

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