ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7181-34G>A

gnomAD frequency: 0.75362  dbSNP: rs362706
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242583 SCV000310797 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830219 SCV000971954 benign not provided 2018-06-19 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.
Genome-Nilou Lab RCV001795455 SCV002033542 benign Norman-Roberts syndrome 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830219 SCV005270554 benign not provided criteria provided, single submitter not provided

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