ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.149-5C>T

gnomAD frequency: 0.00004  dbSNP: rs200056840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002215242 SCV002362081 likely benign Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2023-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002993449 SCV003624994 uncertain significance Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing The c.149-5C>T intronic alteration consists of a C to T substitution 5 nucleotides before exon 3 (coding exon 2) of the TRNT1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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