ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.336C>T (p.Leu112=)

gnomAD frequency: 0.00004  dbSNP: rs794727530
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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) RCV000177432 SCV000229288 uncertain significance not provided 2014-10-21 criteria provided, single submitter clinical testing
Invitae RCV001078892 SCV000636833 likely benign Acrocallosal syndrome 2024-01-12 criteria provided, single submitter clinical testing

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