ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.*1498C>T (rs17182484)

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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 RCV000307903 SCV000473463 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364494 SCV000473464 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272172 SCV000473465 likely benign Osteoglophonic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329728 SCV000473466 likely benign Nonsyndromic Trigonocephaly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386520 SCV000473467 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing

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