ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.216G>T (p.Leu72=)

gnomAD frequency: 0.00001  dbSNP: rs1166882020
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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 RCV001409767 SCV001611800 likely benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2020-03-31 criteria provided, single submitter clinical testing

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