ClinVar Miner

Submissions for variant NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp) (rs764278537)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680083 SCV000807523 uncertain significance Bartsocas-Papas syndrome 2017-09-01 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory homozygous in a 5-year-old female with speech delay, bilateral cleft lip and palate, ectodermal dysplasia (abnormal nails, sparse hair, reduced sweating, small teeth, possible hypodontia), small ear lobes, fusion of left eyelids. Heterozygotes would be expected to be asymptomatic carriers.
OMIM RCV000710014 SCV000840379 pathogenic Curly hair, ankyloblepharon, nail dysplasia syndrome 2018-10-14 no assertion criteria provided literature only

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