ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro)

gnomAD frequency: 0.00253  dbSNP: rs191267920
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000969283 SCV000725922 benign not provided 2020-08-28 criteria provided, single submitter clinical testing
Invitae RCV000969283 SCV001116791 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Mendelics RCV000989144 SCV001139360 likely benign Autosomal dominant auditory neuropathy 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969283 SCV002563175 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing DIAPH3: BP4
PreventionGenetics, part of Exact Sciences RCV003905630 SCV004722111 benign DIAPH3-related condition 2019-11-01 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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