ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.1534+5G>C

dbSNP: rs775172922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987038 SCV001136226 likely pathogenic 3M syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000987038 SCV002507151 uncertain significance 3M syndrome 2 2022-05-09 criteria provided, single submitter clinical testing

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