ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4543-5A>C

gnomAD frequency: 0.00001  dbSNP: rs903101532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001410287 SCV001612332 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554011 SCV003624248 uncertain significance Inborn genetic diseases 2022-05-02 criteria provided, single submitter clinical testing The c.4543-5A>C intronic alteration consists of a A to C substitution 5 nucleotides before coding exon 22 in the DYNC1H1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003963299 SCV004776502 likely benign DYNC1H1-related disorder 2022-12-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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