ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.961-17G>A

gnomAD frequency: 0.00133  dbSNP: rs372657388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720131 SCV000521902 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing
Counsyl RCV000665067 SCV000789126 likely benign Tyrosinemia type I 2017-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665067 SCV002409068 benign Tyrosinemia type I 2024-12-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665067 SCV002089842 benign Tyrosinemia type I 2019-07-26 no assertion criteria provided clinical testing

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