ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3942G>C (p.Leu1314=)

gnomAD frequency: 0.00003  dbSNP: rs776674506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002079959 SCV002324033 likely benign Acrocallosal syndrome 2023-12-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883747 SCV004699398 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KIF7: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003883747 SCV005213954 likely benign not provided criteria provided, single submitter not provided

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