ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10987A>G (p.Thr3663Ala)

gnomAD frequency: 0.00001  dbSNP: rs200204286
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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 RCV001060148 SCV001224815 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031910 SCV004861253 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.10987A>G (p.T3663A) alteration is located in exon 58 (coding exon 58) of the DYNC1H1 gene. This alteration results from a A to G substitution at nucleotide position 10987, causing the threonine (T) at amino acid position 3663 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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