ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.3339dup (p.Ala1114fs)

dbSNP: rs2509151608
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003493271 SCV004239022 pathogenic Intellectual disability, autosomal dominant 56 2023-12-29 criteria provided, single submitter clinical testing

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