ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.433+1105C>T

gnomAD frequency: 0.03733  dbSNP: rs16846663
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218178 SCV000268887 benign not specified 2015-05-05 criteria provided, single submitter clinical testing c.472+4C>T in intron 3 of CLRN1: This variant is not expected to have clinical s ignificance because it has been identified at high frequency in multiple populat ions, including in 3.7% (275/7400) of South Asian chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs16846663).
Preventiongenetics, part of Exact Sciences RCV000218178 SCV000307002 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000838420 SCV000980287 benign not provided 2018-06-15 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.
Athena Diagnostics Inc RCV000838420 SCV001143623 benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527489 SCV001738520 benign Usher syndrome type 3A 2021-06-15 criteria provided, single submitter clinical testing

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