ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.43C>T (p.Leu15=)

gnomAD frequency: 0.00002  dbSNP: rs775112005
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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 RCV001432543 SCV001635314 likely benign Glycine encephalopathy 2020-11-03 criteria provided, single submitter clinical testing

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