ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=)

gnomAD frequency: 0.00215  dbSNP: rs141112920
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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 RCV002313625 SCV000848770 likely benign Inborn genetic diseases 2017-01-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000968632 SCV001116098 benign Rafiq syndrome 2024-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816766 SCV002072282 likely benign not specified 2017-08-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437410 SCV004163984 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing MAN1B1: BP4, BP7

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