ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.391+47A>G

dbSNP: rs73515058
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001542969 SCV001761402 benign Deficiency of guanidinoacetate methyltransferase 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001647383 SCV001859616 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647383 SCV005308914 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001542969 SCV002087034 benign Deficiency of guanidinoacetate methyltransferase 2019-10-17 no assertion criteria provided clinical testing

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