ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1195+9C>T

gnomAD frequency: 0.00227  dbSNP: rs117758987
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342616 SCV000351399 benign Kufor-Rakeb syndrome 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081874 SCV000762689 benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000675903 SCV001812053 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001081874 SCV002805914 benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-08-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675903 SCV000801630 benign not provided 2018-01-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004549649 SCV004751845 benign ATP13A2-related disorder 2019-09-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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