ClinVar Miner

Submissions for variant NM_000113.3(TOR1A):c.990C>T (p.Tyr330=)

gnomAD frequency: 0.00003  dbSNP: rs148849547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000330963 SCV000340947 uncertain significance not provided 2016-04-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000330963 SCV001248847 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Invitae RCV003746510 SCV004482034 likely benign Dystonic disorder 2023-10-11 criteria provided, single submitter clinical testing

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