ClinVar Miner

Submissions for variant NM_002907.4(RECQL):c.701-10_701-7del

dbSNP: rs770192412
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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 RCV001942208 SCV002232595 likely benign not provided 2023-10-20 criteria provided, single submitter clinical testing
GeneDx RCV001942208 SCV002578853 uncertain significance not provided 2024-08-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868)
PreventionGenetics, part of Exact Sciences RCV003893015 SCV004712342 likely benign RECQL-related disorder 2022-09-26 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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