ClinVar Miner

Submissions for variant NM_194293.4(XIRP1):c.4495G>A (p.Glu1499Lys)

gnomAD frequency: 0.00002  dbSNP: rs369082457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001824126 SCV002073795 likely benign not specified criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000162178 SCV000196464 likely pathogenic Classical primary microcephaly 2014-12-01 no assertion criteria provided research

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