ClinVar Miner

Submissions for variant NC_000021.9:g.44285777T>C

gnomAD frequency: 0.90117  dbSNP: rs751032
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511732 SCV001719025 benign Polyglandular autoimmune syndrome, type 1 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001673075 SCV001882078 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25978041)
Breakthrough Genomics, Breakthrough Genomics RCV001673075 SCV005276595 benign not provided criteria provided, single submitter not provided

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