ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) (rs137937390)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974550 SCV001122380 likely benign Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 2020-11-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000974550 SCV001521443 uncertain significance Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 2019-07-23 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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