ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu) (rs781096678)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680165 SCV000807639 uncertain significance Carpenter syndrome 2 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with another missense variant in a 1-year-old male with metopic craniosynostosis, global delays, dysmorphisms, short neck, inverted npples, structural brain anomalies, ptosis, strabismus, rocker bottom feet, adducted thumbs, contractures, cafe au lait macules. Heterozygotes would be expected to be asymptomatic carriers.

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