ClinVar Miner

Submissions for variant NC_000011.10:g.47349757G>A

gnomAD frequency: 0.00012  dbSNP: rs369864892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436150 SCV000513746 likely benign not specified 2018-02-22 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 RCV002061438 SCV002321397 likely benign Hypertrophic cardiomyopathy 2025-02-02 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000436150 SCV001918501 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701003 SCV001926451 likely benign not provided no assertion criteria provided clinical testing

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