ClinVar Miner

Submissions for variant GRCh37/hg19 Xp22.31(chrX:6497085-7910475)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000767691 SCV000898313 pathogenic X-linked ichthyosis with steryl-sulfatase deficiency 2018-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000415106 SCV000328859 pathogenic Ichthyosis (disease) no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in KIAA2022 (NM_001008537.2, c.1376_1377del) and recurrent Xp22.31 (STS) deletion in one individual with reported features of hypotonia, failure to thrive, ichthyosis, abnormal movements, short stature, microcephaly and hypothyroidism. The KIAA2022 variant is categorized as deleterious according to ACMGG guidelines [PMID: 18414213]

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