ClinVar Miner

Submissions for variant NM_033163.4(FGF8):c.385C>T (p.Arg129Ter) (rs876661330)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics,CHU RENNES RCV000223728 SCV000268725 likely pathogenic Holoprosencephaly sequence 2016-04-13 no assertion criteria provided clinical testing
OMIM RCV000735419 SCV000863531 pathogenic Hypogonadotropic hypogonadism 6 with or without anosmia 2018-12-14 no assertion criteria provided literature only

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