ClinVar Miner

Submissions for variant NM_145886.4(PIDD1):c.2443C>T (p.Arg815Trp)

gnomAD frequency: 0.00001  dbSNP: rs758859772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002248357 SCV002520443 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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