ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.60G>A (p.Pro20=)

gnomAD frequency: 0.00001  dbSNP: rs374750709
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807364 SCV000947412 likely benign Glycine encephalopathy 2024-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000807364 SCV001460432 uncertain significance Glycine encephalopathy 2020-09-16 no assertion criteria provided clinical testing

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