ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3870C>G (p.Pro1290=)

dbSNP: rs761421026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616529 SCV000728613 likely benign not specified 2017-08-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002066655 SCV002364220 likely benign Acrocallosal syndrome 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004808800 SCV005435440 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing KIF7: BP4, BP7

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