ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) (rs149372969)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000383438 SCV000351394 uncertain significance Kufor-Rakeb syndrome 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001080128 SCV000640184 likely benign Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658499 SCV000780267 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000658499 SCV000840990 benign not provided 2018-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718027 SCV000848888 uncertain significance History of neurodevelopmental disorder 2018-01-26 criteria provided, single submitter clinical testing Insufficient evidence

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