ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.1283-18T>A

gnomAD frequency: 0.36635  dbSNP: rs2292360
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001788578 SCV002029267 benign 3M syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070354 SCV002494852 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002070354 SCV005240463 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529196 SCV001742257 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529196 SCV001954063 benign not specified no assertion criteria provided clinical testing

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