ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3112-11_3112-10insCT

gnomAD frequency: 0.57089  dbSNP: rs35820949
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252342 SCV000316987 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000252342 SCV000332814 benign not specified 2015-07-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000328696 SCV000394322 benign Acrocallosal syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001537814 SCV000728612 benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000328696 SCV001731353 benign Acrocallosal syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730653 SCV001981082 benign Multiple epiphyseal dysplasia, Al-Gazali type 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730654 SCV001981083 benign Hydrolethalus syndrome 2 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000328696 SCV001981084 benign Acrocallosal syndrome 2021-08-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000252342 SCV001923236 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000252342 SCV001972973 benign not specified no assertion criteria provided clinical testing

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