ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3574+10G>A

gnomAD frequency: 0.00037  dbSNP: rs200327015
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001462145 SCV001666057 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001797178 SCV002038712 likely benign not provided 2021-06-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820157 SCV002065651 uncertain significance not specified 2018-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930963 SCV004744030 likely benign DIAPH1-related condition 2019-09-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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