ClinVar Miner

Submissions for variant NM_018429.3(BDP1):c.5893-36G>A

gnomAD frequency: 0.44671  dbSNP: rs276590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554062 SCV001775217 benign Hearing loss, autosomal recessive 112 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001676056 SCV001893149 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676056 SCV005301561 benign not provided criteria provided, single submitter not provided

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