ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.489C>G (p.Leu163=)

gnomAD frequency: 0.00010  dbSNP: rs150542583
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375074 SCV000473991 likely benign Torsion dystonia 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics RCV001288077 SCV001474916 benign not specified 2020-03-12 criteria provided, single submitter clinical testing
GeneDx RCV001653737 SCV001863612 benign not provided 2020-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22377579, 20687191, 21839475)
Labcorp Genetics (formerly Invitae), Labcorp RCV000375074 SCV003235434 benign Torsion dystonia 6 2024-12-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653737 SCV005223490 likely benign not provided criteria provided, single submitter not provided

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