ClinVar Miner

Submissions for variant NM_001933.5(DLST):c.783G>A (p.Glu261=)

gnomAD frequency: 0.00492  dbSNP: rs11623527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171681 SCV001334495 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing DLST: BP4, BP7, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV001171681 SCV004491902 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928771 SCV004739254 benign DLST-related disorder 2019-06-11 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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