ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.3439-18C>T

gnomAD frequency: 0.00179  dbSNP: rs199764042
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514281 SCV000610609 likely benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514281 SCV001716482 benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554442 SCV001775687 benign Aland island eye disease 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554443 SCV001775688 benign X-linked cone-rod dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554444 SCV001775689 benign Congenital stationary night blindness 2A 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514281 SCV005209357 likely benign not provided criteria provided, single submitter not provided

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