ClinVar Miner

Submissions for variant NM_004407.4(DMP1):c.246A>G (p.Gln82=)

gnomAD frequency: 0.00001  dbSNP: rs1422654841
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
CeGaT Center for Human Genetics Tuebingen RCV002263347 SCV002544880 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing DMP1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV002263347 SCV004621517 likely benign not provided 2023-09-05 criteria provided, single submitter clinical testing

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