ClinVar Miner

Submissions for variant NM_002150.3(HPD):c.325-19G>C

dbSNP: rs200528285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001454191 SCV001657908 likely benign Hawkinsinuria; Tyrosinemia type III 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001454191 SCV002808607 likely benign Hawkinsinuria; Tyrosinemia type III 2022-04-13 criteria provided, single submitter clinical testing

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