ClinVar Miner

Submissions for variant NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs)

dbSNP: rs730882197
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000162098 SCV000196383 likely pathogenic Intellectual disability; Attention deficit hyperactivity disorder; Hypotonia 2014-12-01 no assertion criteria provided research
OMIM RCV000723365 SCV000854765 pathogenic Intellectual disability, autosomal recessive 66 2015-01-13 no assertion criteria provided literature only

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