ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1545+4A>C

gnomAD frequency: 0.00129  dbSNP: rs377270943
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147552 SCV000194999 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2014-05-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000356126 SCV000335031 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000147552 SCV000760993 benign Congenital muscular hypertrophy-cerebral syndrome 2024-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316948 SCV000850959 benign Inborn genetic diseases 2017-06-14 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001529713 SCV001824983 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001529713 SCV004010938 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SMC1A: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529713 SCV001743639 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529713 SCV001931580 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529713 SCV001967631 likely benign not provided no assertion criteria provided clinical testing

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