ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr)

gnomAD frequency: 0.00307  dbSNP: rs527804875
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000248504 SCV000231245 likely benign not specified 2017-05-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000248504 SCV000316966 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000513978 SCV000518552 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513978 SCV000610992 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Invitae RCV001089258 SCV000760085 benign Acrocallosal syndrome 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478595 SCV002803549 likely benign Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2022-05-03 criteria provided, single submitter clinical testing

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