ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.*276C>T (rs266810)

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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 RCV000369560 SCV000410902 likely benign Deficiency of guanidinoacetate methyltransferase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340079 SCV000483714 likely benign Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397956 SCV000483715 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing

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