ClinVar Miner

Submissions for variant NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser)

gnomAD frequency: 0.00045  dbSNP: rs138663409
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616809 SCV000726490 likely benign not specified 2018-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000709210 SCV000838639 likely benign Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030657 SCV001193737 likely benign Hereditary breast ovarian cancer syndrome 2022-03-30 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003762822 SCV001472450 likely benign RECON progeroid syndrome 2023-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514039 SCV001721784 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001514039 SCV002046966 benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000616809 SCV002725417 benign not specified 2020-08-24 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001514039 SCV005214315 likely benign not provided criteria provided, single submitter not provided

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