ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)

dbSNP: rs141880939
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174133 SCV000225378 likely benign not specified 2015-04-24 criteria provided, single submitter clinical testing
Invitae RCV001083591 SCV000556811 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710227 SCV000616305 likely benign not provided 2018-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000710227 SCV000718397 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001119875 SCV001278326 uncertain significance Hereditary spastic paraplegia 15 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.
CeGaT Center for Human Genetics Tuebingen RCV000710227 SCV001747100 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ZFYVE26: BP4, BP7, BS2

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