ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.1249A>C (p.Arg417=)

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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 RCV003608558 SCV004513736 likely benign Alkaptonuria 2024-01-21 criteria provided, single submitter clinical testing

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