ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3201G>A (p.Gln1067=)

gnomAD frequency: 0.00009  dbSNP: rs201342316
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254313 SCV000316990 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058475 SCV002454600 likely benign Acrocallosal syndrome 2024-01-06 criteria provided, single submitter clinical testing

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