ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10555A>G (p.Ser3519Gly)

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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 RCV004979397 SCV005576271 uncertain significance Inborn genetic diseases 2024-11-14 criteria provided, single submitter clinical testing The c.10576A>G (p.S3526G) alteration is located in exon 70 (coding exon 70) of the DYNC2H1 gene. This alteration results from a A to G substitution at nucleotide position 10576, causing the serine (S) at amino acid position 3526 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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