ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1944C>T (p.Ser648=)

gnomAD frequency: 0.00003  dbSNP: rs376272235
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002545990 SCV001091580 likely benign Deficiency of ferroxidase 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884819 SCV004701513 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CP: BP4, BP7

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