ClinVar Miner

Submissions for variant NM_014738.6(TMEM94):c.2605dup (p.Met869fs)

dbSNP: rs1163944538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000735206 SCV000863413 pathogenic TMEM94-related disorder 2018-03-16 criteria provided, single submitter clinical testing This individual has been reported in PMID: 30526868.
OMIM RCV000754831 SCV000882712 pathogenic Intellectual developmental disorder with cardiac defects and dysmorphic facies 2019-02-06 no assertion criteria provided literature only

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