ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.*151T>C

gnomAD frequency: 0.07383  dbSNP: rs659460
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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 RCV000390864 SCV000410903 likely benign Deficiency of guanidinoacetate methyltransferase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304781 SCV000483716 likely benign Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343350 SCV000483717 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672552 SCV001890981 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672552 SCV005208784 likely benign not provided criteria provided, single submitter not provided

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