ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1793-25G>A

gnomAD frequency: 0.00004  dbSNP: rs575804706
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571363 SCV001795821 likely benign not provided 2019-08-25 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268517 SCV002549927 benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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