ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1244+8T>A

gnomAD frequency: 0.00053  dbSNP: rs369829791
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000389318 SCV000344944 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000389318 SCV001013198 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274743 SCV001459147 likely benign Choroideremia 2020-06-03 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000389318 SCV001800052 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699334 SCV001919769 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000389318 SCV001967276 likely benign not provided no assertion criteria provided clinical testing

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