ClinVar Miner

Submissions for variant NM_033163.4(FGF8):c.157-1G>A (rs1554834892)

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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 RCV000656364 SCV000746206 likely pathogenic Holoprosencephaly sequence 2018-04-19 criteria provided, single submitter research Compatible clinical presentation with ACMG criteria:PVS1;PM2;PP3;PP6.

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