ClinVar Miner

Submissions for variant NM_001193313.2(SUGCT):c.1226C>T (p.Thr409Met)

gnomAD frequency: 0.00672  dbSNP: rs192063213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000676795 SCV001155068 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SUGCT: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000676795 SCV002364380 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676795 SCV000802603 likely benign not provided 2018-01-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003918115 SCV004731713 likely benign SUGCT-related disorder 2020-11-25 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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