ClinVar Miner

Submissions for variant NM_000360.4(TH):c.313-88G>A

gnomAD frequency: 0.22682  dbSNP: rs4930043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001537994 SCV001754954 benign Autosomal recessive DOPA responsive dystonia 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001595097 SCV001828939 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001595097 SCV005321303 benign not provided criteria provided, single submitter not provided

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