ClinVar Miner

Submissions for variant NM_033164.4(FGF8):c.436G>T (p.Val146Phe) (rs139565972)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Muenke lab,National Institutes of Health RCV000656423 SCV000746021 likely pathogenic Holoprosencephaly sequence 2018-04-18 criteria provided, single submitter research Compatible clinical presentation and experimental and ACMG criteria: PS3;PM2;PP3

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