ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.2503G>A (p.Val835Ile)

gnomAD frequency: 0.00001  dbSNP: rs373696281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591739 SCV001815796 uncertain significance Intellectual disability, autosomal dominant 56 2020-09-19 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003314010 SCV004013173 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing PM2

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