ClinVar Miner

Submissions for variant NM_001370595.2(COA8):c.123+10G>A

dbSNP: rs751821020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600358 SCV000727959 likely benign not specified 2018-03-02 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 RCV002232742 SCV002509859 benign not provided 2024-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483693 SCV002795399 likely benign Mitochondrial complex 4 deficiency, nuclear type 17 2021-07-27 criteria provided, single submitter clinical testing

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