ClinVar Miner

Submissions for variant NM_001077416.2(TMEM231):c.823G>A (p.Val275Ile) (rs397514753)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162154 SCV000196440 likely pathogenic Meckel-Gruber syndrome 2014-12-01 no assertion criteria provided research
OMIM RCV000054806 SCV000083051 pathogenic Meckel syndrome, type 11 2013-03-01 no assertion criteria provided literature only

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