ClinVar Miner

Submissions for variant NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn)

gnomAD frequency: 0.13676  dbSNP: rs77419724
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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 RCV000379417 SCV000419676 benign Dystonia 16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000379417 SCV001717929 benign Dystonia 16 2019-06-27 criteria provided, single submitter clinical testing
GeneDx RCV001653610 SCV001863493 benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Mendelics RCV002248618 SCV002516798 likely benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653610 SCV005257122 likely benign not provided criteria provided, single submitter not provided

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