ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2655G>A (p.Ala885=)

gnomAD frequency: 0.00004  dbSNP: rs779122875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816159 SCV002063449 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074243 SCV002360876 likely benign Acrocallosal syndrome 2024-01-19 criteria provided, single submitter clinical testing

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