ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.514C>T (p.Leu172=)

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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 RCV003625236 SCV004412143 likely benign Glycine encephalopathy 2022-11-16 criteria provided, single submitter clinical testing

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