ClinVar Miner

Submissions for variant NM_004425.4(ECM1):c.792G>A (p.Glu264=)

gnomAD frequency: 0.01478  dbSNP: rs78194273
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000969412 SCV001116928 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000969412 SCV001896667 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338885 SCV004049147 benign Lipid proteinosis 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000969412 SCV005283960 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003918408 SCV004736953 benign ECM1-related disorder 2019-11-07 no assertion criteria provided 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).

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