ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1511-6del

dbSNP: rs775072539
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001637 SCV001159141 benign Choroideremia 2023-10-26 criteria provided, single submitter clinical testing
Invitae RCV001520957 SCV001730181 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001001637 SCV002089128 benign Choroideremia 2019-11-11 no assertion criteria provided clinical testing

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