ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.267+1G>A

dbSNP: rs2545119735
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003594713 SCV004244654 pathogenic Intellectual disability, autosomal dominant 57 2023-10-26 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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