ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.375C>T (p.Ala125=)

dbSNP: rs370413810
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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 RCV002105024 SCV002392142 likely benign Acrocallosal syndrome 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992612 SCV004811640 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing KIF7: BP4, BP7

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