ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1036+15C>T

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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 RCV003064085 SCV003353789 likely benign Deficiency of ferroxidase 2022-05-05 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003064085 SCV003807205 uncertain significance Deficiency of ferroxidase 2022-07-12 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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