ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.460-7T>G

gnomAD frequency: 0.00003  dbSNP: rs1200384623
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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 RCV000820798 SCV000961526 likely benign Cerebral creatine deficiency syndrome 2022-08-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272271 SCV001454101 uncertain significance Deficiency of guanidinoacetate methyltransferase 2020-09-16 no assertion criteria provided clinical testing

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