ClinVar Miner

Submissions for variant NM_001367479.1(DNAH14):c.9670G>A (p.Val3224Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004250070 SCV003869546 uncertain significance not specified 2023-03-13 criteria provided, single submitter clinical testing The c.9391G>A (p.V3131I) alteration is located in exon 62 (coding exon 61) of the DNAH14 gene. This alteration results from a G to A substitution at nucleotide position 9391, causing the valine (V) at amino acid position 3131 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003420596 SCV004125707 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing DNAH14: BP4

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