ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1740G>A (p.Pro580=)

gnomAD frequency: 0.00011  dbSNP: rs200473560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593320 SCV000706014 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062065 SCV002349884 likely benign Acrocallosal syndrome 2023-11-13 criteria provided, single submitter clinical testing

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