ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.880G>A (p.Glu294Lys) (rs528376963)

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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 RCV000608240 SCV000693735 pathogenic Holoprosencephaly sequence 2018-03-08 criteria provided, single submitter research Co-inherited FGF8 loss-of-function in two affected sibs.

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