ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn)

gnomAD frequency: 0.03831  dbSNP: rs17124662
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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 RCV000276142 SCV000389308 benign Leber congenital amaurosis 3 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.
Illumina Laboratory Services, Illumina RCV000331315 SCV000389309 benign Retinitis pigmentosa 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 RCV000276142 SCV001727562 benign Leber congenital amaurosis 3 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001672504 SCV001890310 benign not provided 2020-11-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30924900)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805016 SCV002050992 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672504 SCV005217837 likely benign not provided criteria provided, single submitter not provided

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