ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=)

gnomAD frequency: 0.00002  dbSNP: rs372511563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711518 SCV000533953 likely benign not provided 2019-11-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711518 SCV000841895 benign not provided 2017-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001467959 SCV001671991 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-12-28 criteria provided, single submitter clinical testing

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