ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.755-9C>T

gnomAD frequency: 0.00001  dbSNP: rs759140266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064869 SCV002326492 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2024-10-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530861 SCV004726686 likely benign SQSTM1-related disorder 2019-06-13 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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