ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3518-17C>T

gnomAD frequency: 0.00003  dbSNP: rs200157929
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252985 SCV000316993 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058476 SCV002397441 likely benign Acrocallosal syndrome 2023-07-10 criteria provided, single submitter clinical testing

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