ClinVar Miner

Submissions for variant NM_000259.3(MYO5A):c.2012+1G>T (rs769021352)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680043 SCV000807482 pathogenic Griscelli syndrome type 1 2017-09-01 criteria provided, single submitter clinical testing This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory homozygous in a 2-year-old female with global delays, seizures, bilateral optic nerve hypoplasia, hypoplasia of the corpus callosum, periventricular leukomalacia, nystagmus

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