ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.67C>T (p.Arg23Ter)

gnomAD frequency: 0.00001  dbSNP: rs1235928535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714581 SCV000845287 pathogenic Acrocallosal syndrome 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714582 SCV000845288 pathogenic Multiple epiphyseal dysplasia, Al-Gazali type 2018-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021117 SCV005640391 likely pathogenic Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-06-12 criteria provided, single submitter clinical testing

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