ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter)

dbSNP: rs1562085332
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SingHealth Duke-NUS Institute of Precision Medicine RCV000721979 SCV000853133 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2017-06-07 no assertion criteria provided curation

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