ClinVar Miner

Submissions for variant NM_012280.4(FTSJ1):c.362-2A>T

dbSNP: rs2061565957
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260765 SCV001437857 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

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