ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.4248T>C (p.Asp1416=)

gnomAD frequency: 0.00053  dbSNP: rs112024742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000225967 SCV000285576 benign Werner syndrome 2024-10-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712176 SCV005264791 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003947753 SCV004756833 likely benign WRN-related disorder 2022-12-08 no assertion criteria provided 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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