ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.775-6G>C

gnomAD frequency: 0.12475  dbSNP: rs56268318
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000254536 SCV000305988 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362936 SCV000397068 benign Glycogen storage disease IXb 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.
GeneDx RCV000254536 SCV000517633 benign not specified 2016-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000362936 SCV001732726 benign Glycogen storage disease IXb 2024-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675923 SCV000801651 benign not provided 2017-03-13 no assertion criteria provided clinical testing

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