ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1788+17G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005012163 SCV005642973 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-03-26 criteria provided, single submitter clinical testing

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