ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu)

gnomAD frequency: 0.00001  dbSNP: rs182522590
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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 RCV000544306 SCV000655604 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2025-01-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004791567 SCV005411984 uncertain significance not provided 2024-05-16 criteria provided, single submitter clinical testing

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