ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.1082-13C>T (rs185831613)

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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 RCV000297622 SCV000473623 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336384 SCV000473624 likely benign Nonsyndromic Trigonocephaly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406668 SCV000473625 likely benign Osteoglophonic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315388 SCV000473626 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367724 SCV000473627 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing

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