ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9406T>G (p.Ser3136Ala)

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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 RCV004974764 SCV005576261 uncertain significance Inborn genetic diseases 2024-10-03 criteria provided, single submitter clinical testing The c.9406T>G (p.S3136A) alteration is located in exon 60 (coding exon 60) of the DYNC2H1 gene. This alteration results from a T to G substitution at nucleotide position 9406, causing the serine (S) at amino acid position 3136 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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