ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.630C>T (p.Pro210=)

gnomAD frequency: 0.00014  dbSNP: rs144004164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000252613 SCV000306477 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000644574 SCV000363431 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000644574 SCV000766274 benign Familial hemophagocytic lymphohistiocytosis 2 2024-01-28 criteria provided, single submitter clinical testing

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