ClinVar Miner

Submissions for variant NM_001372106.1(DNAH10):c.5573C>G (p.Thr1858Ser)

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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 RCV004368884 SCV004858218 uncertain significance not specified 2023-12-18 criteria provided, single submitter clinical testing The c.5219C>G (p.T1740S) alteration is located in exon 30 (coding exon 30) of the DNAH10 gene. This alteration results from a C to G substitution at nucleotide position 5219, causing the threonine (T) at amino acid position 1740 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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