ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3567C>T (p.Thr1189=)

gnomAD frequency: 0.00131  dbSNP: rs140803915
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526282 SCV000655740 benign Luscan-Lumish syndrome 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531388 SCV001746465 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SETD2: BP4, BP7
GeneDx RCV001531388 SCV001936239 benign not provided 2020-01-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001796122 SCV002065444 benign not specified 2018-04-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000526282 SCV002553614 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001796122 SCV004813040 benign not specified 2024-02-09 criteria provided, single submitter clinical testing Variant summary: SETD2 c.3567C>T alters a non-conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.001 in 251026 control chromosomes. To our knowledge, no occurrence of c.3567C>T in individuals affected with Luscan-Lumish Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 475514). Based on the evidence outlined above, the variant was classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV001531388 SCV005261302 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796122 SCV002036035 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001531388 SCV002037889 likely benign not provided no assertion criteria provided clinical testing

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