ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.3611del (p.Arg1204fs)

dbSNP: rs2509153423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270397 SCV001450680 likely pathogenic Intellectual disability, autosomal dominant 56 2020-10-12 no assertion criteria provided clinical testing

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