ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.600C>T (p.Asp200=) (rs17175898)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711647 SCV000842033 benign not provided 2018-02-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372366 SCV000473639 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279977 SCV000473640 likely benign Nonsyndromic Trigonocephaly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351336 SCV000473641 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391925 SCV000473642 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292726 SCV000473643 likely benign Osteoglophonic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000543155 SCV000644855 benign Kallmann syndrome 2; Pfeiffer syndrome 2017-08-25 criteria provided, single submitter clinical testing

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