ClinVar Miner

Submissions for variant NM_004972.4(JAK2):c.3323A>G (rs142269166)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000969040 SCV001116531 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV001250552 SCV001425378 uncertain significance Thrombocythemia 3 2020-02-10 criteria provided, single submitter clinical testing This JAK2 variant (rs142269166) is present in a large population datasets (gnomAD: 552/281382 total alleles; 0.1962%; no homozygotes), but believed to be overrepresented in patients with myeloproliferative neoplasms. Bioinformatic tools queried predict that the substitution would be tolerated, but these algorithms have low specificity, especially for predicting gain of function variants. Due to lack of segregation and functional data, we consider the clinical significance of c.3323A>G to be uncertain at this time.
ITMI RCV000121246 SCV000085417 not provided not specified 2013-09-19 no assertion provided reference population

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