ClinVar Miner

Submissions for variant NM_006929.5(SKIC2):c.2341-1G>T

dbSNP: rs1772848223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733641 SCV001984376 pathogenic Trichohepatoenteric syndrome 2 2021-01-28 criteria provided, single submitter clinical testing

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