ClinVar Miner

Submissions for variant NM_001519.4(BRF1):c.667C>T (p.Arg223Trp)

gnomAD frequency: 0.00003  dbSNP: rs370270828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Ulm RCV000150046 SCV000192006 pathogenic Cerebellar-facial-dental syndrome 2014-12-04 no assertion criteria provided research
OMIM RCV000150046 SCV000196916 pathogenic Cerebellar-facial-dental syndrome 2015-01-05 no assertion criteria provided literature only

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