ClinVar Miner

Submissions for variant NM_024411.5(PDYN):c.600T>C (p.His200=)

gnomAD frequency: 0.16142  dbSNP: rs6045819
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000606402 SCV000433061 benign Spinocerebellar ataxia type 23 2018-01-12 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000606402 SCV000743429 benign Spinocerebellar ataxia type 23 2014-10-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000606402 SCV000744673 benign Spinocerebellar ataxia type 23 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289121 SCV001476730 benign not specified 2019-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523416 SCV001733116 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001523416 SCV001949314 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523416 SCV005315527 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606402 SCV000734054 benign Spinocerebellar ataxia type 23 no assertion criteria provided clinical testing

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