ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.*311C>G (rs266811)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000314996 SCV000410901 likely benign Deficiency of guanidinoacetate methyltransferase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374817 SCV000483712 likely benign Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282642 SCV000483713 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing

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