ClinVar Miner

Submissions for variant NM_007293.3(C4A):c.2944+55T>C

gnomAD frequency: 1.00000  dbSNP: rs149464899
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
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261654 SCV001438957 benign not specified criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707578 SCV005225553 likely benign not provided criteria provided, single submitter not provided

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