ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)

dbSNP: rs730882242
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000201793 SCV003924316 pathogenic Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-05-08 criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003984821 SCV004801231 pathogenic Autosomal dominant nonsyndromic hearing loss 1 2024-03-14 criteria provided, single submitter research
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000162177 SCV000196463 likely pathogenic Epilepsy; Global developmental delay; Failure to thrive; Microcephaly 2014-12-01 no assertion criteria provided research
OMIM RCV000201793 SCV000256540 pathogenic Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2015-02-01 no assertion criteria provided literature only

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