ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.553+2_553+3del

dbSNP: rs1555441272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667407 SCV000791844 likely pathogenic Tyrosinemia type I 2017-05-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667407 SCV001163753 likely pathogenic Tyrosinemia type I no assertion criteria provided clinical testing

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