ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.105G>A (p.Arg35=)

gnomAD frequency: 0.00020  dbSNP: rs142321728
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004026875 SCV000848873 likely benign Nephrolithiasis/nephrocalcinosis 2017-01-27 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002060921 SCV002321084 benign Lowe syndrome 2022-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493276 SCV002800073 likely benign Dent disease type 2; Lowe syndrome 2021-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953272 SCV004770031 likely benign OCRL-related disorder 2019-07-16 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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