ClinVar Miner

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

gnomAD frequency: 0.00078  dbSNP: rs137937390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974550 SCV001122380 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2024-01-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000974550 SCV001521443 uncertain significance Granulomatous disease, chronic, 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].
Revvity Omics, Revvity Omics RCV000974550 SCV003813501 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2020-08-04 criteria provided, single submitter clinical testing

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