ClinVar Miner

Submissions for variant NM_015488.5(PNKD):c.652C>A (p.Arg218=)

gnomAD frequency: 0.02221  dbSNP: rs34745867
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000279580 SCV000427380 benign Paroxysmal nonkinesigenic dyskinesia 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001081844 SCV000560595 benign Paroxysmal nonkinesigenic dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000279580 SCV000677358 benign Paroxysmal nonkinesigenic dyskinesia 1 2017-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000676681 SCV001893084 benign not provided 2018-12-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676681 SCV000802477 benign not provided 2016-02-29 no assertion criteria provided clinical testing

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