ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)

gnomAD frequency: 0.00001  dbSNP: rs753454594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814459 SCV000954870 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-08-01 criteria provided, single submitter clinical testing
GeneDx RCV003442107 SCV004167979 likely benign not provided 2023-11-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genesis Genome Database RCV000856994 SCV000999562 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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