ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3759C>A (p.Pro1253=)

dbSNP: rs147767277
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002081315 SCV002377228 likely benign Acrocallosal syndrome 2021-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395381 SCV004130857 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing KIF7: BP4, BP7

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