ClinVar Miner

Submissions for variant NM_139125.4(MASP1):c.1012-17T>C

gnomAD frequency: 0.00022  dbSNP: rs201766436
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002161462 SCV002473135 benign 3MC syndrome 1 2023-09-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717887 SCV005305253 benign not provided criteria provided, single submitter not provided

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