ClinVar Miner

Submissions for variant NM_024306.5(FA2H):c.537G>A (p.Leu179=)

gnomAD frequency: 0.00068  dbSNP: rs75711361
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000395355 SCV000398849 benign Hereditary spastic paraplegia 35 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.
Athena Diagnostics RCV000711623 SCV000842007 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084328 SCV001003516 benign Spastic paraplegia 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000711623 SCV001802540 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848664 SCV002104680 benign Hereditary spastic paraplegia 2021-06-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000711623 SCV001742456 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727685 SCV001969528 benign not specified no assertion criteria provided clinical testing

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