ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1417T>C (p.Leu473=)

dbSNP: rs2134990657
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001451718 SCV001655359 likely benign Ataxia-telangiectasia-like disorder 2019-02-02 criteria provided, single submitter clinical testing

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