ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.-270G>A (rs578030717)

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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 RCV000310087 SCV000473709 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364788 SCV000473710 likely benign Nonsyndromic Trigonocephaly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265581 SCV000473711 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305775 SCV000473712 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360487 SCV000473713 likely benign Osteoglophonic dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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