ClinVar Miner

Submissions for variant NM_024027.5(COLEC11):c.291C>T (p.Ser97=)

gnomAD frequency: 0.00007  dbSNP: rs374138625
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 RCV000935870 SCV001081624 benign not provided 2022-02-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000935870 SCV004138529 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing COLEC11: BP4, BP7

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