ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.486G>A (p.Pro162=)

gnomAD frequency: 0.00002  dbSNP: rs368650653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444857 SCV001647871 likely benign Cerebral creatine deficiency syndrome 2023-12-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836407 SCV002087025 likely benign Deficiency of guanidinoacetate methyltransferase 2020-01-30 no assertion criteria provided clinical testing

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