ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)

gnomAD frequency: 0.53290  dbSNP: rs4797
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000245665 SCV000309862 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302608 SCV000456915 benign Paget disease of bone 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000607666 SCV000744317 benign Paget disease of bone 2, early-onset 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713547 SCV000844169 benign not provided 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV001522453 SCV001732002 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000713547 SCV001858494 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808697 SCV002057154 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808699 SCV002057155 benign Myopathy, distal, with rimmed vacuoles 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808698 SCV002057156 benign Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000302608 SCV002057157 benign Paget disease of bone 3 2021-07-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607666 SCV000734406 benign Paget disease of bone 2, early-onset no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000607666 SCV000745672 benign Paget disease of bone 2, early-onset 2016-04-22 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000245665 SCV001920084 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000245665 SCV001956890 benign not specified no assertion criteria provided clinical testing

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