ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=)

gnomAD frequency: 0.01451  dbSNP: rs77972324
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425872 SCV000518665 benign not specified 2016-02-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079847 SCV000559562 benign Combined oxidative phosphorylation defect type 17 2025-02-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316542 SCV004017445 benign Prostate cancer, hereditary, 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676441 SCV005247898 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676441 SCV000802222 benign not provided 2017-09-15 no assertion criteria provided clinical testing

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