ClinVar Miner

Submissions for variant NM_145886.4(PIDD1):c.2275-1G>A

dbSNP: rs2133753509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002248356 SCV002520442 pathogenic Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 2022-04-20 no assertion criteria provided literature only

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