ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) (rs5030739)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429965 SCV000517947 benign not specified 2016-01-20 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000429965 SCV000539091 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - variant associated with prostate cancer.
Invitae RCV000477360 SCV000559553 benign Combined oxidative phosphorylation deficiency 17 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000477360 SCV001140303 benign Combined oxidative phosphorylation deficiency 17 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000005359 SCV000025537 pathogenic Prostate cancer, hereditary, 2 2002-12-01 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676439 SCV000802220 benign not provided 2016-02-15 no assertion criteria provided clinical testing

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