ClinVar Miner

Submissions for variant NM_172240.3(POC1B):c.1113+7C>T

gnomAD frequency: 0.75411  dbSNP: rs4842658
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000836758 SCV000978604 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000836758 SCV001724472 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789393 SCV002031603 benign Cone-rod dystrophy 20 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000836758 SCV005234296 benign not provided criteria provided, single submitter not provided

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