ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.707-7_707-5del

dbSNP: rs779284513
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593596 SCV000707139 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing
Counsyl RCV000665800 SCV000789976 uncertain significance Tyrosinemia type I 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV000665800 SCV001014859 likely benign Tyrosinemia type I 2024-01-18 criteria provided, single submitter clinical testing

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