ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2942A>T (p.Gln981Leu)

dbSNP: rs1658484718
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331441 SCV001523482 uncertain significance Immunodeficiency, common variable, 7 2019-02-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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