ClinVar Miner

Submissions for variant NM_015135.3(NUP205):c.786C>T (p.Gly262=)

gnomAD frequency: 0.00877  dbSNP: rs12707242
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949523 SCV001095781 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000949523 SCV002006851 likely benign not provided 2021-09-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949523 SCV002821856 benign not provided 2022-11-01 criteria provided, single submitter clinical testing NUP205: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000949523 SCV005226781 likely benign not provided criteria provided, single submitter not provided

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