ClinVar Miner

Submissions for variant NM_001009994.2(RIPPLY2):c.299del (p.Leu100fs) (rs864309489)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000202450 SCV000256727 likely pathogenic Klippel-Feil syndrome 2, autosomal recessive criteria provided, single submitter research Our clinical and genomic findings, together with animal model data and clinical reports in the literature, suggest that a homozygous frameshift mutation is responsible for a new type of autosomal recessive KFS. Additional reports of individuals with a similar phenotype and animal studies will be crucial to clarify the potential role of RIPPLY2 in the etiology of heterotaxy.
OMIM RCV000207167 SCV000262595 uncertain significance not provided 2015-11-01 no assertion criteria provided literature only

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