ClinVar Miner

Submissions for variant NM_033164.4(FGF8):c.157-33G>C (rs1554834889)

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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 RCV000656426 SCV000746204 likely pathogenic Holoprosencephaly sequence 2018-04-19 criteria provided, single submitter research Consistent clinical presentation. One of multiple examples of alternative splicing eliminating the production of the most potent alternative splice forms. Predicted to be benign as an amino acid missense variation (BP3). This prediction was ignored based on splicing considerations of likely pathogenicity. ACMG criteria met: PVS1;PM2;PP3;PP6 (BP3 not considered).

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