ClinVar Miner

Submissions for variant NM_194318.4(B3GLCT):c.347+20C>G

gnomAD frequency: 0.38493  dbSNP: rs9542307
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082786 SCV000114830 benign not specified 2013-07-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082786 SCV000316884 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516704 SCV001725026 benign Peters plus syndrome 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516704 SCV001775196 benign Peters plus syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001650936 SCV001867499 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650936 SCV005235929 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082786 SCV001742685 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000082786 SCV001952196 benign not specified no assertion criteria provided clinical testing

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