ClinVar Miner

Submissions for variant NM_213649.2(SFXN4):c.617-3C>T

gnomAD frequency: 0.28961  dbSNP: rs17668734
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442829 SCV000517645 benign not specified 2016-01-21 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 RCV001807249 SCV002055164 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 RCV000676423 SCV002391754 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676423 SCV005320862 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676423 SCV000802202 benign not provided 2016-02-22 no assertion criteria provided clinical testing

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