ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1749G>A (p.Ser583=)

gnomAD frequency: 0.01843  dbSNP: rs35098198
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000246307 SCV000305093 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306868 SCV000372947 benign Niemann-Pick disease, type A 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.
Invitae RCV001514586 SCV001722464 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000306868 SCV001737243 benign Niemann-Pick disease, type A 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000675399 SCV001943944 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675399 SCV000801072 benign not provided 2017-05-31 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000246307 SCV001930405 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000246307 SCV001974194 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000306868 SCV002092295 benign Niemann-Pick disease, type A 2017-05-08 no assertion criteria provided clinical testing

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