ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser)

gnomAD frequency: 0.00136  dbSNP: rs117433399
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000419403 SCV000511299 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga) RCV000419403 SCV000862579 uncertain significance not provided 2018-07-27 criteria provided, single submitter clinical testing
Invitae RCV000419403 SCV001040334 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000419403 SCV004144792 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing LAMA1: BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000419403 SCV001800498 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000419403 SCV001965818 likely benign not provided no assertion criteria provided clinical testing

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