ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser)

gnomAD frequency: 0.25152  dbSNP: rs2298014
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439267 SCV000517596 benign not specified 2015-12-02 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.
Invitae RCV001515780 SCV001723930 benign Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702443 SCV001933255 benign Hereditary spastic paraplegia 74 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702642 SCV001933256 benign Multiple mitochondrial dysfunctions syndrome 3 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676869 SCV000802682 benign not provided 2016-02-16 no assertion criteria provided clinical testing

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