ClinVar Miner

Submissions for variant NM_000096.4(CP):c.528T>C (p.Thr176=)

gnomAD frequency: 0.00001  dbSNP: rs778533284
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001428392 SCV001631090 likely benign Deficiency of ferroxidase 2022-02-03 criteria provided, single submitter clinical testing

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