Submissions for variant NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)

gnomAD frequency: 0.00230  dbSNP: rs141436407

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518450	SCV000615507	benign	not specified	2017-04-27	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625254	SCV000744319	likely benign	Paget disease of bone 2, early-onset	2017-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872567	SCV001014397	benign	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset	2025-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157195	SCV001318745	uncertain significance	Paget disease of bone 3	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625254	SCV000745674	likely benign	Paget disease of bone 2, early-onset	2016-09-21	no assertion criteria provided	clinical testing