ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln)

gnomAD frequency: 0.00229  dbSNP: rs116823950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174186 SCV000225447 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000174186 SCV000316977 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000551731 SCV000636824 benign Acrocallosal syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001577666 SCV001805084 likely benign not provided 2020-02-13 criteria provided, single submitter clinical testing

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