ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1305-8T>C

gnomAD frequency: 0.32355  dbSNP: rs3760316
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423878 SCV000517574 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 RCV001521290 SCV001730604 benign Combined oxidative phosphorylation defect type 17 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001521290 SCV001875998 benign Combined oxidative phosphorylation defect type 17 2021-07-30 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316536 SCV004017433 benign Prostate cancer, hereditary, 2 2023-07-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676442 SCV000802223 benign not provided 2016-02-15 no assertion criteria provided clinical testing

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