ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10730G>A (p.Arg3577Gln)

gnomAD frequency: 0.00001  dbSNP: rs759112374
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002648965 SCV003533694 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.10751G>A (p.R3584Q) alteration is located in exon 72 (coding exon 72) of the DYNC2H1 gene. This alteration results from a G to A substitution at nucleotide position 10751, causing the arginine (R) at amino acid position 3584 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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