ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.195G>A (p.Ala65=)

gnomAD frequency: 0.00019  dbSNP: rs377291764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409419 SCV001611438 likely benign Combined oxidative phosphorylation defect type 17 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000866311 SCV002575609 uncertain significance not provided 2024-09-26 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000866311 SCV005412661 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021269 SCV005639697 uncertain significance Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 2024-04-10 criteria provided, single submitter clinical testing

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