ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.978C>T (p.Val326=)

dbSNP: rs555659148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729244 SCV000856890 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001403025 SCV001604886 likely benign Acrocallosal syndrome 2023-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000729244 SCV005433449 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing KIF7: BP4, BP7

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