ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1170+18dup

dbSNP: rs1274781490
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 RCV000608068 SCV000724230 likely benign not specified 2017-10-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064137 SCV002410497 benign Progressive sclerosing poliodystrophy 2021-07-13 criteria provided, single submitter clinical testing

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