ClinVar Miner

Submissions for variant NM_001389.5(DSCAM):c.5280A>G (p.Ser1760=)

gnomAD frequency: 0.00678  dbSNP: rs201433234
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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 RCV000949105 SCV001095336 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949105 SCV004033910 benign not provided 2025-03-01 criteria provided, single submitter clinical testing DSCAM: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000949105 SCV005310627 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003925902 SCV004739419 benign DSCAM-related disorder 2020-01-28 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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