ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile)

dbSNP: rs1559085751
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735304 SCV000854457 uncertain significance Atrial septal defect; High palate; Frontal bossing; Thin upper lip vermilion; Pectus carinatum; Generalized hypotonia; Joint laxity; Abnormal cerebral white matter morphology; Downturned corners of mouth; Cerebral white matter atrophy criteria provided, single submitter clinical testing

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