ClinVar Miner

Submissions for variant NM_006660.5(CLPX):c.1146+13G>A

gnomAD frequency: 0.99995  dbSNP: rs2946670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511685 SCV001718968 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001587442 SCV001822053 benign Protoporphyria, erythropoietic, 2 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511685 SCV005292958 benign not provided criteria provided, single submitter not provided

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