ClinVar Miner

Submissions for variant NM_033164.4(FGF8):c.130C>T (p.Arg44Trp) (rs781205876)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Muenke lab,National Institutes of Health RCV000656428 SCV000746219 benign Holoprosencephaly sequence 2018-04-20 criteria provided, single submitter research Compatible clinical findings, but predicted to be benign on the basis of experimental data and ACMG criteria:BS3/BS1;BP4. Six unrelated detections in ExAC exceeds the birth incidence of Holopresencephaly (1:10,1000 to 1:20,000).
Genomic Medicine Lab, University of California San Francisco RCV001007891 SCV001167596 uncertain significance Peters plus syndrome 2018-05-24 criteria provided, single submitter clinical testing

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