ClinVar Miner

Submissions for variant NM_014875.3(KIF14):c.955del (p.Ser319fs)

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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 RCV005005628 SCV005629785 likely pathogenic Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; Microcephaly 20, primary, autosomal recessive 2024-05-23 criteria provided, single submitter clinical testing

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