ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.225G>A (p.Pro75=) (rs116146060)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757212 SCV000885356 benign not provided 2017-05-17 criteria provided, single submitter clinical testing
Invitae RCV000458126 SCV000557853 benign Osler hemorrhagic telangiectasia syndrome 2017-12-27 criteria provided, single submitter clinical testing

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