ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.-42del

gnomAD frequency: 0.13587  dbSNP: rs757193063
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000362603 SCV000427865 likely benign 3-M syndrome 2016-06-14 criteria provided, single submitter clinical testing

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