ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2318+6T>C

gnomAD frequency: 0.06393  dbSNP: rs4988322
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246341 SCV000308840 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522777 SCV001732381 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001522777 SCV001939657 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522777 SCV005319236 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000246341 SCV001743991 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000246341 SCV001809496 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000246341 SCV001959982 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000246341 SCV001973893 benign not specified no assertion criteria provided clinical testing

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