ClinVar Miner

Submissions for variant NM_004531.5(MOCS2):c.318T>C (p.Ile106=)

gnomAD frequency: 0.00014  dbSNP: rs142746131
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998383 SCV001154406 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing MOCS2: BP4, BP7, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000998383 SCV001720843 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000998383 SCV005222095 likely benign not provided criteria provided, single submitter not provided

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