ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1228G>C (p.Asp410His)

gnomAD frequency: 0.00022  dbSNP: rs79314063
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502135 SCV000596549 benign not specified 2019-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000527945 SCV000655133 benign Tumor predisposition syndrome 3 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000502135 SCV000727283 likely benign not specified 2018-02-01 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.
Ambry Genetics RCV001010443 SCV001170643 likely benign Hereditary cancer-predisposing syndrome 2018-12-27 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.
Sema4, Sema4 RCV001010443 SCV002527145 likely benign Hereditary cancer-predisposing syndrome 2021-11-09 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000502135 SCV002550076 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000502135 SCV002773917 benign not specified 2021-06-25 criteria provided, single submitter clinical testing

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