ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) (rs397514753)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000054806 SCV001521033 pathogenic Meckel syndrome, type 11 2020-01-14 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000054806 SCV000083051 pathogenic Meckel syndrome, type 11 2013-03-01 no assertion criteria provided literature only
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162154 SCV000196440 likely pathogenic Meckel-Gruber syndrome 2014-12-01 no assertion criteria provided research
PerkinElmer Genomics RCV001781386 SCV002016901 likely pathogenic not provided 2020-10-12 no assertion criteria provided clinical testing

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