ClinVar Miner

Submissions for variant NM_213649.2(SFXN4):c.258A>G (p.Gln86=)

gnomAD frequency: 0.46610  dbSNP: rs10749291
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425162 SCV000517643 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.
Genome-Nilou Lab RCV001807247 SCV002055170 benign Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676425 SCV002491792 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676425 SCV005320871 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676425 SCV000802204 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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