ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=)

gnomAD frequency: 0.03284  dbSNP: rs10058037
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249521 SCV000309857 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261149 SCV000456920 benign Paget disease of bone 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000535559 SCV000655589 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001610641 SCV001842265 benign not provided 2018-09-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000249521 SCV001879903 benign not specified 2021-01-13 criteria provided, single submitter clinical testing

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