ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1512C>T (p.Phe504=)

dbSNP: rs2134970536
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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 RCV002239115 SCV002509575 likely benign Ataxia-telangiectasia-like disorder 2023-03-18 criteria provided, single submitter clinical testing

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