ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.1277_1282+5del

dbSNP: rs760929207
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine RCV000778117 SCV000854652 likely pathogenic 3M syndrome 1 2015-01-04 no assertion criteria provided clinical testing A 9 year-old-Turkish female 3-M syndrome patient was homozygous for g.8487_8497delTCAAAGGTCAG variant in OBSL1. There was parental consanguinity. Patient presented the characteristic features of 3-M syndrome. The g.8487_8497delTCAAAGGTCAG variant presents in ExAC (Exome Aggregation Consortium) database as c.1277_1282+5delTCAAAGGTCAG with 1 heterozygous carrier. This variant meets our criteria to be classified as likely pathogenic.

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