ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.313_314insTG (p.Arg105fs)

dbSNP: rs2144638078
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542501 SCV001760442 pathogenic Deficiency of guanidinoacetate methyltransferase no assertion criteria provided clinical testing

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