ClinVar Miner

Submissions for variant NC_000019.10:g.45529185C>T

dbSNP: rs566450630
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000944103 SCV001501744 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001425271 SCV001627896 likely benign 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2018-08-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001425271 SCV002805092 likely benign 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2021-08-12 criteria provided, single submitter clinical testing

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