ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1371+9G>A

gnomAD frequency: 0.00048  dbSNP: rs200303699
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723657 SCV000113206 uncertain significance not provided 2013-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000081297 SCV000532871 likely benign not specified 2016-10-20 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.
Invitae RCV001085378 SCV000554494 benign Brugada syndrome 8 2024-01-31 criteria provided, single submitter clinical testing

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