ClinVar Miner

Submissions for variant NM_002150.3(HPD):c.898C>A (p.Arg300=)

gnomAD frequency: 0.00051  dbSNP: rs149281612
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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 RCV002540046 SCV001027984 likely benign Hawkinsinuria; Tyrosinemia type III 2024-01-11 criteria provided, single submitter clinical testing

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