ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.618C>T (p.Arg206=)

gnomAD frequency: 0.20834  dbSNP: rs10790716
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244240 SCV000316235 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405459 SCV000368546 benign Megalencephalic leukoencephalopathy with subcortical cysts 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 RCV001517787 SCV001726360 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001517787 SCV001912559 benign not provided 2018-07-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702404 SCV001934114 benign Megalencephalic leukoencephalopathy with subcortical cysts 2A 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702405 SCV001934115 benign Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517787 SCV005231067 benign not provided criteria provided, single submitter not provided

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