ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131801 SCV003815906 uncertain significance Lafora disease 2021-08-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV003131801 SCV004041557 uncertain significance Lafora disease 2023-05-01 criteria provided, single submitter clinical testing

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