ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.-178G>A

gnomAD frequency: 0.22394  dbSNP: rs56043846
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000387673 SCV000483520 likely benign Hypertyrosinemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001618679 SCV001844890 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618679 SCV005213300 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001833486 SCV002089813 benign Tyrosinemia type I 2019-07-26 no assertion criteria provided clinical testing

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