ClinVar Miner

Submissions for variant NM_000360.4(TH):c.288G>C (p.Leu96=)

gnomAD frequency: 0.00002  dbSNP: rs151082354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416035 SCV000493142 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing TH: BP4, BP7
Invitae RCV001277078 SCV001021870 likely benign Autosomal recessive DOPA responsive dystonia 2023-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000416035 SCV001857438 likely benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277078 SCV001463821 likely benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing

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