ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11395C>G (p.Leu3799Val)

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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 RCV005326956 SCV005999005 uncertain significance Inborn genetic diseases 2025-01-24 criteria provided, single submitter clinical testing The c.11416C>G (p.L3806V) alteration is located in exon 79 (coding exon 79) of the DYNC2H1 gene. This alteration results from a C to G substitution at nucleotide position 11416, causing the leucine (L) at amino acid position 3806 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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