ClinVar Miner

Submissions for variant NM_170665.4(ATP2A2):c.2628A>G (p.Lys876=)

gnomAD frequency: 0.00647  dbSNP: rs149324360
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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 RCV000402722 SCV000376249 benign Keratosis follicularis 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.
Athena Diagnostics RCV000516338 SCV000612462 benign not specified 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000967289 SCV001114668 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259842 SCV002539140 benign Acrokeratosis verruciformis of Hopf 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000402722 SCV002539141 benign Keratosis follicularis 2021-12-05 criteria provided, single submitter clinical testing

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