ClinVar Miner

Submissions for variant NM_139125.4(MASP1):c.1143T>C (p.Ser381=)

gnomAD frequency: 0.00039  dbSNP: rs141985299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593303 SCV000705702 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080671 SCV001092409 likely benign 3MC syndrome 1 2023-07-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000593303 SCV004149564 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing MASP1: BP4

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