ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.246C>A (p.Leu82=) (rs145669504)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505921 SCV000603927 likely benign not specified 2016-11-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759796 SCV000889368 uncertain significance not provided 2019-02-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000505921 SCV000919463 likely benign not specified 2019-09-03 criteria provided, single submitter clinical testing
Invitae RCV000759796 SCV001019605 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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