ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.1490A>T (p.Glu497Val)

gnomAD frequency: 0.03670  dbSNP: rs146216760
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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 RCV000946679 SCV001092826 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000946679 SCV001829140 benign not provided 2019-04-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000946679 SCV005246620 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003978150 SCV004792761 benign SPEG-related disorder 2019-06-14 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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