ClinVar Miner

Submissions for variant NM_020806.5(GPHN):c.1797T>C (p.Asp599=)

dbSNP: rs41285476
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546759 SCV000641747 benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001577324 SCV001804679 likely benign not provided 2020-09-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497132 SCV002810806 likely benign Hyperekplexia 1; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2021-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001577324 SCV004010298 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing GPHN: BP4, BS2

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