ClinVar Miner

Submissions for variant NM_014738.6(TMEM94):c.1176dup (p.Thr393fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596685 SCV005088812 likely pathogenic Intellectual developmental disorder with cardiac defects and dysmorphic facies 2020-03-11 criteria provided, single submitter clinical testing This variant has not been previously reported in the literature. However, several other truncating variants lying downstream of the identified variant, have been previously reported in homozygous or compound heterozygous state in individuals affected with neurodevelopmental disorders in unrelated families of different ethnic origins [PMID: 30526868]. In addition, truncating variants lying in the downstream of the identified variant have been reported as pathogenic in the context of intellectual developmental disorder with cardiac defects and dysmorphic facies in the ClinVar database.

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