ClinVar Miner

Submissions for variant NM_020232.5(PSMG2):c.537C>T (p.Ile179=)

gnomAD frequency: 0.00311  dbSNP: rs78701021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515657 SCV001723786 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515657 SCV005251188 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003931087 SCV004743722 likely benign PSMG2-related disorder 2023-10-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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