ClinVar Miner

Submissions for variant NM_000795.4(DRD2):c.928C>T (p.Pro310Ser)

gnomAD frequency: 0.00103  dbSNP: rs1800496
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246273 SCV000305534 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000723713 SCV000331464 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086779 SCV000561872 likely benign Dystonic disorder 2024-12-16 criteria provided, single submitter clinical testing
New York Genome Center RCV002265711 SCV002548790 uncertain significance DRD2-associated Dystonia 2021-07-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723713 SCV005093359 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing DRD2: BP4, BS1

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