ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=)

gnomAD frequency: 0.00021  dbSNP: rs72944827
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127142 SCV000170696 benign not specified 2013-01-16 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 RCV000676272 SCV002483075 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676272 SCV004183859 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing NDUFS1: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic RCV000676272 SCV000802028 likely benign not provided 2016-03-15 no assertion criteria provided clinical testing

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