ClinVar Miner

Submissions for variant NM_001377229.1(DISP1):c.566C>T (p.Pro189Leu)

gnomAD frequency: 0.00009  dbSNP: rs200321673
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
Centogene AG - the Rare Disease Company RCV001809258 SCV002059764 uncertain significance Microform holoprosencephaly 2019-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005095225 SCV005825637 likely benign not provided 2024-12-07 criteria provided, single submitter clinical testing

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