ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.1315-13T>C

gnomAD frequency: 0.00041  dbSNP: rs201793983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002091571 SCV002434646 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486924 SCV002796755 likely benign Pelger-Huët anomaly; Greenberg dysplasia; Reynolds syndrome; Regressive spondylometaphyseal dysplasia 2021-09-28 criteria provided, single submitter clinical testing

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