ClinVar Miner

Submissions for variant NM_015213.4(DENND5A):c.1611A>G (p.Gln537=)

gnomAD frequency: 0.00421  dbSNP: rs78439449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092697 SCV001249329 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing DENND5A: BP4, BP7, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV001092697 SCV002426767 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001092697 SCV005221284 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003963037 SCV004779550 benign DENND5A-related disorder 2023-12-29 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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