ClinVar Miner

Submissions for variant NM_018685.5(ANLN):c.2749-54T>C

gnomAD frequency: 0.49490  dbSNP: rs6957214
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001708483 SCV001934889 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260367 SCV002539973 benign Focal segmental glomerulosclerosis 8 2021-12-05 criteria provided, single submitter clinical testing

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