ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.11C>T (p.Pro4Leu)

gnomAD frequency: 0.00008  dbSNP: rs770815981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002485992 SCV002802869 likely benign Dent disease type 2; Lowe syndrome 2021-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570544 SCV002929686 likely benign Lowe syndrome 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035334 SCV004994494 likely benign Nephrolithiasis/nephrocalcinosis 2023-12-27 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.

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