ClinVar Miner

Submissions for variant NM_138568.4(EXOC3L2):c.398dup (p.Leu134fs) (rs886039793)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000256481 SCV000322767 likely pathogenic Meckel-Gruber syndrome no assertion criteria provided research LOF, autozygosity mapping

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