ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.-49+1740C>A

gnomAD frequency: 0.00089  dbSNP: rs145322905
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871300 SCV001012926 likely benign Myasthenic syndrome, congenital, 22 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027785 SCV005010352 likely benign Inborn genetic diseases 2023-09-29 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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