ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)

gnomAD frequency: 0.00190  dbSNP: rs149325238
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249020 SCV000314408 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000249020 SCV001158802 uncertain significance not specified 2019-03-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001135808 SCV001295612 benign Asphyxiating thoracic dystrophy 4 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001135809 SCV001295613 benign Nephronophthisis 12 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001418739 SCV001620974 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000861850 SCV001770089 likely benign not provided 2020-01-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26940125)

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