ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.2598_2601del (p.Gly868fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596025 SCV005091010 likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2023-09-18 criteria provided, single submitter clinical testing PVS1, PS2, PM2 - Low frequency in gnomAD population databases. In silico prediction tools estimated that the variant could be damaging for the protein function/stracture. Loss-of-function is a known mechanism of disease for this gene. The variant was detected de-novo (paternity confirmed).

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