ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.*311C>G

gnomAD frequency: 0.06572  dbSNP: rs266811
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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 RCV000314996 SCV000410901 likely benign Deficiency of guanidinoacetate methyltransferase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374817 SCV000483712 likely benign Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282642 SCV000483713 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653594 SCV001869486 benign not provided 2018-06-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653594 SCV005208762 likely benign not provided criteria provided, single submitter not provided

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