ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.96G>A (p.Lys32=)

gnomAD frequency: 0.00448  dbSNP: rs2228018
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556551 SCV000644896 benign Familial hemophagocytic lymphohistiocytosis 2 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000556551 SCV001261353 likely benign Familial hemophagocytic lymphohistiocytosis 2 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316712 SCV004017108 benign Lymphoma, non-Hodgkin, familial 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703198 SCV004700746 benign not provided 2024-01-01 criteria provided, single submitter clinical testing PRF1: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003925659 SCV004755813 benign PRF1-related condition 2019-05-30 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703198 SCV001929482 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727747 SCV001973059 benign not specified no assertion criteria provided clinical testing

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