ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.546C>T (p.Ser182=)

gnomAD frequency: 0.00001  dbSNP: rs759721454
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002217247 SCV002363321 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2021-09-06 criteria provided, single submitter clinical testing

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