ClinVar Miner

Submissions for variant NM_020806.5(GPHN):c.202-6T>C

gnomAD frequency: 0.23447  dbSNP: rs3784075
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247914 SCV000313652 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515625 SCV001723734 benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001530595 SCV001745477 benign not provided 2019-12-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001530595 SCV005295565 benign not provided criteria provided, single submitter not provided

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