ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2768C>T (p.Thr923Met)

gnomAD frequency: 0.00003  dbSNP: rs760518511
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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 RCV001223952 SCV001396123 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436871 SCV002750384 uncertain significance Inborn genetic diseases 2024-07-27 criteria provided, single submitter clinical testing The c.2768C>T (p.T923M) alteration is located in exon 10 (coding exon 10) of the DYNC1H1 gene. This alteration results from a C to T substitution at nucleotide position 2768, causing the threonine (T) at amino acid position 923 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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