ClinVar Miner

Submissions for variant NM_001347886.2(DNAH3):c.527C>T (p.Pro176Leu)

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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 RCV004196751 SCV003690987 uncertain significance not specified 2022-10-03 criteria provided, single submitter clinical testing The c.614C>T (p.P205L) alteration is located in exon 5 (coding exon 5) of the DNAH3 gene. This alteration results from a C to T substitution at nucleotide position 614, causing the proline (P) at amino acid position 205 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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