ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)

gnomAD frequency: 0.00452  dbSNP: rs7052858
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147553 SCV000195000 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000639411 SCV000760984 benign Congenital muscular hypertrophy-cerebral syndrome 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316949 SCV000849703 benign Inborn genetic diseases 2017-02-03 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000639411 SCV001327788 benign Congenital muscular hypertrophy-cerebral 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.
GeneDx RCV001560861 SCV001783353 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478410 SCV002802732 benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2021-09-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001560861 SCV005210498 likely benign not provided criteria provided, single submitter not provided

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