ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.9793C>T (p.Arg3265Cys)

dbSNP: rs368568444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920958 SCV002194412 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004611993 SCV005109531 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing The c.9793C>T (p.R3265C) alteration is located in exon 62 (coding exon 61) of the DNAH1 gene. This alteration results from a C to T substitution at nucleotide position 9793, causing the arginine (R) at amino acid position 3265 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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