ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1002del (p.His335fs)

dbSNP: rs2133692304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001582439 SCV001821709 likely pathogenic Autosomal recessive DOPA responsive dystonia 2021-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001582439 SCV005676251 likely pathogenic Autosomal recessive DOPA responsive dystonia 2024-05-29 criteria provided, single submitter clinical testing

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