ClinVar Miner

Submissions for variant NM_002150.3(HPD):c.1116G>A (p.Glu372=)

dbSNP: rs2137605580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002169532 SCV002333337 likely benign Hawkinsinuria; Tyrosinemia type III 2022-08-09 criteria provided, single submitter clinical testing

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