ClinVar Miner

Submissions for variant NM_005535.3(IL12RB1):c.581-17G>A

gnomAD frequency: 0.00019  dbSNP: rs370354493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333407 SCV001525974 uncertain significance Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 2018-03-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001333407 SCV001721291 benign Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 2023-10-18 criteria provided, single submitter clinical testing

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