ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.*146A>C

gnomAD frequency: 0.07418  dbSNP: rs659455
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000310942 SCV000410904 benign Deficiency of guanidinoacetate methyltransferase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399238 SCV000483718 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308431 SCV000483719 likely benign Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001594960 SCV001829595 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001594960 SCV005208795 likely benign not provided criteria provided, single submitter not provided

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