ClinVar Miner

Submissions for variant NM_033164.4(FGF8):c.411+1G>A (rs1490604080)

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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 RCV000656499 SCV000746203 likely pathogenic Holoprosencephaly sequence 2018-04-19 criteria provided, single submitter research Multiple splicing algorithms agree that this affects splicing. The most potent FGF8 isoforms are predicted to be absent. ACMG considerations are met: PVS1;PM2;PP3;PP6.

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