ClinVar Miner

Submissions for variant NM_005816.5(CD96):c.1362G>C (p.Pro454=)

gnomAD frequency: 0.99966  dbSNP: rs1533270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002057821 SCV002336981 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002057821 SCV005300671 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528574 SCV001740512 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528574 SCV001951440 benign not specified no assertion criteria provided clinical testing

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