ClinVar Miner

Submissions for variant NM_015135.3(NUP205):c.4883A>G (p.Gln1628Arg)

gnomAD frequency: 0.00091  dbSNP: rs147336077
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002176867 SCV002334145 likely benign not provided 2024-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002176867 SCV004042322 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing

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