ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.230T>C (p.Leu77Ser)

dbSNP: rs1555900746
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000659143 SCV000780958 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000659143 SCV003814256 uncertain significance not provided 2020-02-13 criteria provided, single submitter clinical testing

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