ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.13747C>T (p.Arg4583Cys)

gnomAD frequency: 0.00087  dbSNP: rs144505769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245518 SCV001418811 likely benign Primary ciliary dyskinesia 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346411 SCV004075396 uncertain significance Inborn genetic diseases 2023-07-06 criteria provided, single submitter clinical testing The c.13747C>T (p.R4583C) alteration is located in exon 92 (coding exon 91) of the DNAH8 gene. This alteration results from a C to T substitution at nucleotide position 13747, causing the arginine (R) at amino acid position 4583 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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