ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6704G>A (p.Arg2235His)

gnomAD frequency: 0.00002  dbSNP: rs765956720
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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 RCV001925493 SCV002168424 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003289206 SCV003955512 uncertain significance Inborn genetic diseases 2023-05-26 criteria provided, single submitter clinical testing The c.6704G>A (p.R2235H) alteration is located in exon 33 (coding exon 33) of the DYNC1H1 gene. This alteration results from a G to A substitution at nucleotide position 6704, causing the arginine (R) at amino acid position 2235 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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