ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1218+15C>T

gnomAD frequency: 0.26965  dbSNP: rs55825263
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428697 SCV000517572 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 RCV001662380 SCV001876001 benign Combined oxidative phosphorylation defect type 17 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001662380 SCV002432593 benign Combined oxidative phosphorylation defect type 17 2025-02-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316534 SCV004017435 benign Prostate cancer, hereditary, 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709977 SCV005247903 benign not provided criteria provided, single submitter not provided

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