ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.4863-4G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fan Lab, Zhengzhou University RCV000681452 SCV000807187 likely pathogenic Chédiak-Higashi syndrome 2018-04-23 no assertion criteria provided clinical testing This splicing mutation was identified in a 4-year-old female patient who diagnosed with Chediak-Higashi Syndrome. It was inherited from the patient's father and considered as a part of a compound heterozygote together with another heterozygous mutation c.5719A>G in CHS1/LYST gene. The patient showed typical clinical features of CHS, while her parents were healthy.

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