ClinVar Miner

Submissions for variant NM_014669.5(NUP93):c.789G>A (p.Glu263=)

gnomAD frequency: 0.01243  dbSNP: rs8056371
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 RCV000881593 SCV001024779 benign not provided 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000881593 SCV002038676 likely benign not provided 2021-02-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000881593 SCV005216498 likely benign not provided criteria provided, single submitter not provided

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