ClinVar Miner

Submissions for variant NM_015681.6(B9D1):c.63+23G>A

gnomAD frequency: 0.56182  dbSNP: rs10445411
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000834043 SCV000975811 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.
Genome-Nilou Lab RCV001553892 SCV001774980 benign Joubert syndrome 27 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554216 SCV001775444 benign Meckel syndrome, type 9 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000834043 SCV005248686 benign not provided criteria provided, single submitter not provided

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