ClinVar Miner

Submissions for variant NM_033164.4(FGF8):c.365C>T (p.Thr122Met) (rs61730334)

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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 RCV000656425 SCV000746200 likely pathogenic Holoprosencephaly sequence 2018-04-19 criteria provided, single submitter research Consistent clinical findings. Consanguinity confirmed. Meets experimental and ACMG criteria: PS3;PM2;PP2/PP3.

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