ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.869+1G>A (rs730882231)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332730 SCV001525127 likely pathogenic Joubert syndrome 14 2020-01-13 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162151 SCV000196437 likely pathogenic Meckel-Gruber syndrome 2014-12-01 no assertion criteria provided research
PerkinElmer Genomics RCV001332730 SCV002018983 pathogenic Joubert syndrome 14 2021-02-08 no assertion criteria provided clinical testing

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