ClinVar Miner

Submissions for variant NC_000016.10:g.88651945C>T

gnomAD frequency: 0.38472  dbSNP: rs9932581
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518209 SCV001726863 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-01-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710284 SCV005249685 benign not provided criteria provided, single submitter not provided

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