ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.124-4C>T

gnomAD frequency: 0.00018  dbSNP: rs13447397
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703620 SCV000519307 benign not provided 2019-09-09 criteria provided, single submitter clinical testing
Invitae RCV000547746 SCV000641799 benign Baraitser-Winter syndrome 1 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000547746 SCV002524410 benign Baraitser-Winter syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253429 SCV002524411 benign Developmental malformations-deafness-dystonia syndrome 2021-12-05 criteria provided, single submitter clinical testing

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