ClinVar Miner

Submissions for variant NM_000326.5(RLBP1):c.684+20C>T

gnomAD frequency: 0.30776  dbSNP: rs950541
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442096 SCV000514409 benign not specified 2015-08-14 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 RCV001515753 SCV001723896 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796037 SCV002033635 benign Bothnia retinal dystrophy 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796036 SCV002033636 benign Pigmentary retinal dystrophy 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515753 SCV005294805 benign not provided criteria provided, single submitter not provided

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