ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) (rs140382957)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177331 SCV000229178 benign not specified 2015-01-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335187 SCV000473684 likely benign Pfeiffer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405303 SCV000473685 likely benign Nonsyndromic Trigonocephaly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300152 SCV000473686 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350406 SCV000473687 likely benign Osteoglophonic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405061 SCV000473688 likely benign Craniosynostosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000177331 SCV000513033 benign not specified 2016-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000177331 SCV000603704 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV000546208 SCV000644852 benign not provided 2019-01-30 criteria provided, single submitter clinical testing

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