ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.4060G>A (p.Asp1354Asn)

gnomAD frequency: 0.00031  dbSNP: rs138005965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001474594 SCV001678765 likely benign Luscan-Lumish syndrome 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001647297 SCV001861196 benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001474594 SCV002555530 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533829 SCV004735531 likely benign SETD2-related disorder 2024-01-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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