ClinVar Miner

Submissions for variant NM_020806.5(GPHN):c.1473-17T>C

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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 RCV003011973 SCV003306699 likely benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2022-01-22 criteria provided, single submitter clinical testing

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