ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.*218G>C

gnomAD frequency: 0.38461  dbSNP: rs8946
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000395345 SCV000360617 benign Myofibrillar myopathy 6 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.
Illumina Laboratory Services, Illumina RCV000285835 SCV000360618 benign Dilated cardiomyopathy 1HH 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000648852 SCV000770673 benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001618517 SCV001842475 benign not provided 2018-06-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26512958)
Breakthrough Genomics, Breakthrough Genomics RCV001618517 SCV005320892 benign not provided criteria provided, single submitter not provided

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