ClinVar Miner

Submissions for variant NM_001372.4(DNAH9):c.13007G>A (p.Gly4336Asp)

dbSNP: rs2544952727
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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 RCV002936254 SCV003671879 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.13007G>A (p.G4336D) alteration is located in exon 68 (coding exon 68) of the DNAH9 gene. This alteration results from a G to A substitution at nucleotide position 13007, causing the glycine (G) at amino acid position 4336 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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