ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe)

dbSNP: rs9895963
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080140 SCV000290443 likely benign Combined oxidative phosphorylation defect type 17 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000676447 SCV000527980 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316293 SCV004017446 likely benign Prostate cancer, hereditary, 2 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929992 SCV004738124 benign ELAC2-related condition 2019-09-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000676447 SCV000802228 uncertain significance not provided 2016-02-29 no assertion criteria provided clinical testing

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